A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Cell surface proteins that bind glutamate and act through G-proteins to influence second messenger systems. Several types of metabotropic glutamate receptors have been cloned. They differ in pharmacology, distribution, and mechanisms of action.
A type I G protein-coupled receptor mostly expressed post-synaptic pyramidal cells of the cortex and CENTRAL NERVOUS SYSTEM.
Synthesized from endogenous epinephrine and norepinephrine in vivo. It is found in brain, blood, CSF, and urine, where its concentrations are used to measure catecholamine turnover.
A multiribosomal structure representing a linear array of RIBOSOMES held together by messenger RNA; (RNA, MESSENGER); They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
Extensions of the nerve cell body. They are short and branched and receive stimuli from other NEURONS.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Small RNAs found in the cytoplasm usually complexed with proteins in scRNPs (RIBONUCLEOPROTEINS, SMALL CYTOPLASMIC).
Resorcinols are aromatic organic compounds containing two hydroxyl groups attached to a benzene ring, known for their antiseptic and antibacterial properties, used in various medical and cosmetic applications.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate via direct electrical coupling with ELECTRICAL SYNAPSES. Several other non-synaptic chemical or electric signal transmitting processes occur via extracellular mediated interactions.
Spiny processes on DENDRITES, each of which receives excitatory input from one nerve ending (NERVE ENDINGS). They are commonly found on PURKINJE CELLS and PYRAMIDAL CELLS.
Catalyzes the ATP-dependent PHOSPHORYLATION of GMP to generate GDP and ADP.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
The capacity of the NERVOUS SYSTEM to change its reactivity as the result of successive activations.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Complexes of RNA-binding proteins with ribonucleic acids (RNA).
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
The aggregation of soluble ANTIGENS with ANTIBODIES, alone or with antibody binding factors such as ANTI-ANTIBODIES or STAPHYLOCOCCAL PROTEIN A, into complexes large enough to fall out of solution.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.
Compounds which inhibit the synthesis of proteins. They are usually ANTI-BACTERIAL AGENTS or toxins. Mechanism of the action of inhibition includes the interruption of peptide-chain elongation, the blocking the A site of ribosomes, the misreading of the genetic code or the prevention of the attachment of oligosaccharide side chains to glycoproteins.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
A class of ionotropic glutamate receptors characterized by their affinity for the agonist AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid).
Condensed areas of cellular material that may be bounded by a membrane.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A persistent increase in synaptic efficacy, usually induced by appropriate activation of the same synapses. The phenomenological properties of long-term potentiation suggest that it may be a cellular mechanism of learning and memory.
Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Drugs that bind to but do not activate excitatory amino acid receptors, thereby blocking the actions of agonists.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Prominent lobed neuropils found in ANNELIDA and all ARTHROPODS except crustaceans. They are thought to be involved in olfactory learning and memory.
Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.

Dilemmas in counselling females with the fragile X syndrome. (1/836)

The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females have an increased risk of having affected offspring. The counselling of this couple was complicated by their impaired comprehension which subsequently impaired their thinking on the different options. The woman became pregnant and underwent CVS, which showed an affected male fetus. The pregnancy was terminated. Whether nondirective counselling for this couple was the appropriate method is discussed and the importance of a system oriented approach, through involving relatives, is stressed.  (+info)

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. (2/836)

Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP). FMRP and its structural homologues FXR1P and FXR2P form a family of RNA-binding proteins (FXR proteins). The three proteins associate with polyribosomes as cytoplasmic mRNP particles. Here we show that small amounts of FMRP, FXR1P and FXR2P shuttle between cytoplasm and nucleus. Mutant FMRP of a severely affected fragile X patient (FMRPI304N) does not associate with polyribosomes and shuttles more frequently than normal FMRP, indicating that the association with polyribosomes regulates the shuttling process. Using leptomycin B we demonstrate that transport of the FXR proteins out of the nucleus is mediated by the export receptor exportin1. Finally, inactivation of the nuclear export signal in two FXR proteins shows that FMRP shuttles between cytoplasm and nucleoplasm, while FXR2P shuttles between cytoplasm and nucleolus. Therefore, molecular dissection of the shuttling routes used by the FXR proteins suggests that they transport different RNAs.  (+info)

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. (3/836)

Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their condition. We critically evaluated whether screening pregnant women at low risk for FMR1 mutation would be feasible as a routine part of antenatal care in general practice. We also studied acceptance and attitudes to gene testing. From July 1995 until December 1996, a carrier test was offered at the Kuopio City Health Centre free of charge to all pregnant women in the first trimester following counselling given by midwives on fragile X syndrome. All women found to be carriers of FMR1 gene mutations underwent detailed genetic counselling and were offered prenatal testing. Attitudes towards the gene test were elicited by questionnaire. Most pregnant women (85%) elected to undertake the gene test. Six women were found to be carriers (a rate of 1 in 246), and all subsequently accepted prenatal testing. Three foetuses had a normal FMR1 gene, one had a large premutation, one a 'size mosaic' mutation pattern, and another a full mutation. This observational and interventional study demonstrates that antenatal screening provides an effective way of identifying carriers and incorporating prenatal testing into this process.  (+info)

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities. (4/836)

Little is known about the mechanism of CGG instability and the time frame of instability early in embryonic development in the fragile X syndrome. Discordant monozygotic twin brothers with the fragile X syndrome could give us insight into the time frame of the instability. We describe monochorionic diamniotic twin brothers with the fragile X syndrome who had different CGG repeats and different mental capacities, whereas the normal mother had a premutation. The more retarded brother had a full mutation in all his cells and no FMR-1 protein expression in lymphocytes, whereas the less retarded brother had 50%/50% mosaicism for a premutation and full mutation and FMR-1 protein expression in 26% of his lymphocytes. The differences in repeat size could have arisen either before or after the time of splitting. The time of splitting in this type of twin is around day 6-7. Given the high percentage of mosaicism, we hypothesise that the instability started before the time of splitting at day 6-7.  (+info)

Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. (5/836)

Expanded trinucleotide repeats underlie a growing number of human diseases. The human FMR1 (CGG)(n) array can exhibit genetic instability characterized by progressive expansion over several generations leading to gene silencing and the development of the fragile X syndrome. While expansion is dependent upon the length of uninterrupted (CGG)(n), instability occurs in a limited germ line and early developmental window, suggesting that lineage-specific expression of other factors determines the cellular environment permissive for expansion. To identify these factors, we have established normal- and premutation-length human FMR1 (CGG)(n) arrays in the yeast Saccharomyces cerevisiae and assessed the frequency of length changes greater than 5 triplets in cells deficient in various DNA repair and replication functions. In contrast to previous studies with Escherichia coli, we observed a low frequency of orientation-dependent large expansions in arrays carrying long uninterrupted (CGG)(n) arrays in a wild-type background. This frequency was unaffected by deletion of several DNA mismatch repair genes or deletion of the EXO1 and DIN7 genes and was not enhanced through meiosis in a wild-type background. Array contraction occurred in an orientation-dependent manner in most mutant backgrounds, but loss of the Sgs1p resulted in a generalized increase in array stability in both orientations. In contrast, FMR1 arrays had a 10-fold-elevated frequency of expansion in a rad27 background, providing evidence for a role in lagging-strand Okazaki fragment processing in (CGG)(n) triplet repeat expansion.  (+info)

Crystal structure of ERA: a GTPase-dependent cell cycle regulator containing an RNA binding motif. (6/836)

ERA forms a unique family of GTPase. It is widely conserved and essential in bacteria. ERA functions in cell cycle control by coupling cell division with growth rate. ERA homologues also are found in eukaryotes. Here we report the crystal structure of ERA from Escherichia coli. The structure has been determined at 2.4-A resolution. It reveals a two-domain arrangement of the molecule: an N-terminal domain that resembles p21 Ras and a C-terminal domain that is unique. Structure-based topological search of the C domain fails to reveal any meaningful match, although sequence analysis suggests that it contains a KH domain. KH domains are RNA binding motifs that usually occur in tandem repeats and exhibit low sequence similarity except for the well-conserved segment VIGxxGxxIK. We have identified a betaalphaalphabeta fold that contains the VIGxxGxxIK sequence and is shared by the C domain of ERA and the KH domain. We propose that this betaalphaalphabeta fold is the RNA binding motif, the minimum structural requirement for RNA binding. ERA dimerizes in crystal. The dimer formation involves a significantly distorted switch II region, which may shed light on how ERA protein regulates downstream events.  (+info)

Fragile X syndrome with FMR1 and FMR2 deletion. (7/836)

We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, in addition to facial features typical of fragile X syndrome, and marked joint hypermobility. We compare our patient to the three other cases reported in which both FMR1 and FMR2 are deleted. This case has the smallest deletion reported to date. All four patients have epilepsy and a more severe degree of mental retardation than is usual in fragile X syndrome resulting from FMR1 triplet repeat expansion. Three of the patients have joint laxity and two have epicanthic folds. We suggest that these features, in particular severe developmental delay and epilepsy, may form part of the characteristic phenotype resulting from deletion of both FMR1 and FMR2 genes. The diagnosis in this case was delayed because routine cytogenetics showed no abnormality and standard molecular tests for FMR1 triplet repeat expansion (PCR and Southern blotting) failed. Further DNA studies should be undertaken to investigate for a deletion where clinical suspicion of fragile X syndrome is strong and routine laboratory tests fail.  (+info)

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males. (8/836)

To determine the meiotic instability of the CGG-triplet repeat in the fragile-X gene, FMR1, we examined the size of the repeat in single sperm from four premutation males. The males had CGG-repeat sizes of 68, 75, 78, and 100, as determined in peripheral blood samples. All samples showed a broad range of variations, with expansions more common than contractions. Examination of single lymphocytes indicated that somatic cells were relatively more stable than sperm. Surprisingly, the repeats in sperm from the 75- and 78-repeat males had very different size ranges and distribution patterns despite the similarity of the repeat size and AGG interruption in their somatic cells. These results suggest that cis or trans factors may have a role in male germline repeat instability.  (+info)

Fragile X Mental Retardation Protein (FMRP) is a protein encoded by the FMR1 gene in humans. It is an RNA-binding protein that plays a critical role in regulating the translation and stability of mRNAs, particularly those involved in synaptic plasticity and neuronal development.

Mutations in the FMR1 gene, leading to the absence or reduction of FMRP, have been associated with Fragile X syndrome (FXS), which is the most common inherited form of intellectual disability and the leading genetic cause of autism spectrum disorder (ASD). In FXS, the lack of FMRP leads to an overproduction of proteins at synapses, resulting in altered neuronal connectivity and dysfunctional synaptic plasticity.

FMRP is widely expressed in various tissues, but it has a particularly high expression level in the brain, where it regulates the translation of mRNAs involved in learning, memory, and other cognitive functions. FMRP also interacts with several other proteins involved in neuronal development and function, such as ion channels, receptors, and signaling molecules.

Overall, Fragile X Mental Retardation Protein is a crucial regulator of synaptic plasticity and neuronal development, and its dysfunction has been linked to various neurodevelopmental disorders, including Fragile X syndrome, autism spectrum disorder, and intellectual disability.

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, which provides instructions for making a protein called fragile X mental retardation protein (FMRP). This protein is essential for normal brain development.

In people with Fragile X syndrome, the FMR1 gene is missing a critical piece of DNA, leading to little or no production of FMRP. As a result, the brain's nerve cells cannot develop and function normally, which can cause a range of developmental problems, including learning disabilities, cognitive impairment, and behavioral and emotional difficulties.

Fragile X syndrome is the most common form of inherited intellectual disability, affecting about 1 in 4,000 males and 1 in 8,000 females. The symptoms and severity can vary widely, but most people with Fragile X syndrome have some degree of intellectual disability, ranging from mild to severe. They may also have physical features associated with the condition, such as a long face, large ears, flexible joints, and flat feet.

There is no cure for Fragile X syndrome, but early intervention and treatment can help improve outcomes. Treatment typically involves a combination of educational support, behavioral therapy, speech and language therapy, physical therapy, and medication to manage symptoms such as anxiety, hyperactivity, and aggression.

RNA-binding proteins (RBPs) are a class of proteins that selectively interact with RNA molecules to form ribonucleoprotein complexes. These proteins play crucial roles in the post-transcriptional regulation of gene expression, including pre-mRNA processing, mRNA stability, transport, localization, and translation. RBPs recognize specific RNA sequences or structures through their modular RNA-binding domains, which can be highly degenerate and allow for the recognition of a wide range of RNA targets. The interaction between RBPs and RNA is often dynamic and can be regulated by various post-translational modifications of the proteins or by environmental stimuli, allowing for fine-tuning of gene expression in response to changing cellular needs. Dysregulation of RBP function has been implicated in various human diseases, including neurological disorders and cancer.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Metabotropic glutamate receptors (mGluRs) are a type of G protein-coupled receptor (GPCR) that are activated by the neurotransmitter glutamate, which is the primary excitatory neurotransmitter in the central nervous system. There are eight different subtypes of mGluRs, labeled mGluR1 through mGluR8, which are classified into three groups (Group I, II, and III) based on their sequence homology, downstream signaling pathways, and pharmacological properties.

Group I mGluRs include mGluR1 and mGluR5, which are primarily located postsynaptically in the central nervous system. Activation of Group I mGluRs leads to increased intracellular calcium levels and activation of protein kinases, which can modulate synaptic transmission and plasticity.

Group II mGluRs include mGluR2 and mGluR3, which are primarily located presynaptically in the central nervous system. Activation of Group II mGluRs inhibits adenylyl cyclase activity and reduces neurotransmitter release.

Group III mGluRs include mGluR4, mGluR6, mGluR7, and mGluR8, which are also primarily located presynaptically in the central nervous system. Activation of Group III mGluRs inhibits adenylyl cyclase activity and voltage-gated calcium channels, reducing neurotransmitter release.

Overall, metabotropic glutamate receptors play important roles in modulating synaptic transmission and plasticity, and have been implicated in various neurological disorders, including epilepsy, pain, anxiety, depression, and neurodegenerative diseases.

A metabotropic glutamate receptor 5 (mGluR5) is a type of G protein-coupled receptor that binds to the neurotransmitter glutamate, which is the primary excitatory neurotransmitter in the brain. When activated, mGluR5 receptors trigger a variety of intracellular signaling pathways that modulate synaptic transmission, neuronal excitability, and neural plasticity.

mGluR5 receptors are widely expressed throughout the central nervous system, where they play important roles in various physiological processes, including learning and memory, anxiety, addiction, and pain perception. Dysregulation of mGluR5 signaling has been implicated in several neurological and psychiatric disorders, such as fragile X syndrome, Parkinson's disease, schizophrenia, and drug addiction.

Pharmacological targeting of mGluR5 receptors has emerged as a promising therapeutic strategy for the treatment of these disorders. Positive allosteric modulators (PAMs) of mGluR5 have shown potential in preclinical studies for improving cognitive function and reducing negative symptoms in schizophrenia, while negative allosteric modulators (NAMs) have shown promise in preclinical models of fragile X syndrome, Parkinson's disease, and addiction.

Methoxyhydroxyphenylglycol (MHPG) is a major metabolite of the neurotransmitter norepinephrine, which is synthesized in the body from the amino acid tyrosine. Norepinephrine plays important roles in various physiological functions such as the cardiovascular system, respiratory system, and central nervous system. MHPG is formed when norepinephrine is metabolized by enzymes called catechol-O-methyltransferase (COMT) and monoamine oxidase (MAO).

MHPG is primarily found in the urine, and its levels can be measured to assess norepinephrine turnover in the body. Changes in MHPG levels have been associated with various medical conditions, including depression, anxiety disorders, and neurodegenerative diseases such as Parkinson's disease. However, the clinical utility of measuring MHPG levels is still a subject of ongoing research and debate.

Polyribosomes, also known as polysomes, are clusters of ribosomes that are translating the same mRNA molecule simultaneously. They can be found in the cytoplasm of eukaryotic cells and are responsible for the synthesis of proteins. The mRNA molecule serves as a template for the translation process, with multiple ribosomes moving along it and producing multiple copies of the same protein. This allows for efficient and rapid production of large quantities of a single protein. Polyribosomes can be found in high numbers in cells that are actively synthesizing proteins, such as secretory cells or cells undergoing growth and division.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

Protein biosynthesis is the process by which cells generate new proteins. It involves two major steps: transcription and translation. Transcription is the process of creating a complementary RNA copy of a sequence of DNA. This RNA copy, or messenger RNA (mRNA), carries the genetic information to the site of protein synthesis, the ribosome. During translation, the mRNA is read by transfer RNA (tRNA) molecules, which bring specific amino acids to the ribosome based on the sequence of nucleotides in the mRNA. The ribosome then links these amino acids together in the correct order to form a polypeptide chain, which may then fold into a functional protein. Protein biosynthesis is essential for the growth and maintenance of all living organisms.

Dendrites are the branched projections of a neuron that receive and process signals from other neurons. They are typically short and highly branching, increasing the surface area for receiving incoming signals. Dendrites are covered in small protrusions called dendritic spines, which can form connections with the axon terminals of other neurons through chemical synapses. The structure and function of dendrites play a critical role in the integration and processing of information in the nervous system.

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

"Small cytoplasmic RNAs" (scRNAs) are a heterogeneous group of non-coding RNA molecules that are typically 100-300 nucleotides in length and are located within the cytoplasm of cells. They play various roles in post-transcriptional regulation of gene expression, including serving as components of ribonucleoprotein complexes involved in mRNA splicing, stability, and translation.

Some specific types of scRNAs include small nuclear RNAs (snRNAs), which are involved in spliceosomal complexes that remove introns from pre-mRNA; small nucleolar RNAs (snoRNAs), which guide chemical modifications of other RNA molecules, such as ribosomal RNAs (rRNAs); and microRNAs (miRNAs), which bind to target mRNAs and inhibit their translation or promote their degradation.

It's worth noting that the term "small cytoplasmic RNA" is a broad category, and individual scRNAs can have distinct functions and characteristics.

Resorcinols are a type of chemical compound that contain a resorcinol moiety, which is made up of a benzene ring with two hydroxyl groups in the ortho position. In medicine, resorcinol and its derivatives have been used for various purposes, including as antiseptics, antibacterials, and intermediates in the synthesis of other pharmaceuticals.

Resorcinol itself has some medicinal properties, such as being able to reduce pain and inflammation, and it has been used topically to treat conditions like eczema, psoriasis, and acne. However, resorcinol can also be toxic in large amounts, so it must be used with caution.

It's important to note that while resorcinol is a chemical compound, the term "resorcinols" may also refer to a group of related compounds that contain the resorcinol moiety. These compounds can have different medicinal properties and uses depending on their specific structure and function.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

'Drosophila proteins' refer to the proteins that are expressed in the fruit fly, Drosophila melanogaster. This organism is a widely used model system in genetics, developmental biology, and molecular biology research. The study of Drosophila proteins has contributed significantly to our understanding of various biological processes, including gene regulation, cell signaling, development, and aging.

Some examples of well-studied Drosophila proteins include:

1. HSP70 (Heat Shock Protein 70): A chaperone protein involved in protein folding and protection from stress conditions.
2. TUBULIN: A structural protein that forms microtubules, important for cell division and intracellular transport.
3. ACTIN: A cytoskeletal protein involved in muscle contraction, cell motility, and maintenance of cell shape.
4. BETA-GALACTOSIDASE (LACZ): A reporter protein often used to monitor gene expression patterns in transgenic flies.
5. ENDOGLIN: A protein involved in the development of blood vessels during embryogenesis.
6. P53: A tumor suppressor protein that plays a crucial role in preventing cancer by regulating cell growth and division.
7. JUN-KINASE (JNK): A signaling protein involved in stress response, apoptosis, and developmental processes.
8. DECAPENTAPLEGIC (DPP): A member of the TGF-β (Transforming Growth Factor Beta) superfamily, playing essential roles in embryonic development and tissue homeostasis.

These proteins are often studied using various techniques such as biochemistry, genetics, molecular biology, and structural biology to understand their functions, interactions, and regulation within the cell.

A synapse is a structure in the nervous system that allows for the transmission of signals from one neuron (nerve cell) to another. It is the point where the axon terminal of one neuron meets the dendrite or cell body of another, and it is here that neurotransmitters are released and received. The synapse includes both the presynaptic and postsynaptic elements, as well as the cleft between them.

At the presynaptic side, an action potential travels down the axon and triggers the release of neurotransmitters into the synaptic cleft through exocytosis. These neurotransmitters then bind to receptors on the postsynaptic side, which can either excite or inhibit the receiving neuron. The strength of the signal between two neurons is determined by the number and efficiency of these synapses.

Synapses play a crucial role in the functioning of the nervous system, allowing for the integration and processing of information from various sources. They are also dynamic structures that can undergo changes in response to experience or injury, which has important implications for learning, memory, and recovery from neurological disorders.

Dendritic spines are small, specialized protrusions found on the dendrites of neurons, which are cells that transmit information in the nervous system. These structures receive and process signals from other neurons. Dendritic spines have a small head connected to the dendrite by a thin neck, and they vary in shape, size, and number depending on the type of neuron and its function. They are dynamic structures that can change their morphology and strength of connections with other neurons in response to various stimuli, such as learning and memory processes.

Guanylate kinase is an enzyme that plays a crucial role in the synthesis of guanosine triphosphate (GTP) in cells. GTP is a vital energy currency and a key player in various cellular processes, such as protein synthesis, signal transduction, and gene regulation.

The primary function of guanylate kinase is to catalyze the transfer of a phosphate group from adenosine triphosphate (ATP) to guanosine monophosphate (GMP), resulting in the formation of GTP and adenosine diphosphate (ADP). The reaction can be represented as follows:

GMP + ATP → GTP + ADP

There are two main types of guanylate kinases, based on their structure and function:

1. **Classical Guanylate Kinase:** This type of guanylate kinase is found in various organisms, including bacteria, archaea, and eukaryotes. They typically contain around 180-200 amino acids and share a conserved catalytic domain. In humans, there are two classical guanylate kinases (GK1 and GK2) that play essential roles in DNA damage response and neuronal development.
2. **Ubiquitous Guanylate Kinase-like Proteins:** These proteins share structural similarities with the catalytic domain of classical guanylate kinases but lack enzymatic activity. They are involved in various cellular processes, such as transcription regulation and RNA processing.

Guanylate kinase deficiency has been linked to neurological disorders, developmental delays, and seizures in humans. Additionally, inhibiting guanylate kinase activity can be a potential therapeutic strategy for treating certain types of cancer, as it may interfere with the energy production required for uncontrolled cell growth and proliferation.

"Drosophila" is a genus of small flies, also known as fruit flies. The most common species used in scientific research is "Drosophila melanogaster," which has been a valuable model organism for many areas of biological and medical research, including genetics, developmental biology, neurobiology, and aging.

The use of Drosophila as a model organism has led to numerous important discoveries in genetics and molecular biology, such as the identification of genes that are associated with human diseases like cancer, Parkinson's disease, and obesity. The short reproductive cycle, large number of offspring, and ease of genetic manipulation make Drosophila a powerful tool for studying complex biological processes.

The hippocampus is a complex, curved formation in the brain that resembles a seahorse (hence its name, from the Greek word "hippos" meaning horse and "kampos" meaning sea monster). It's part of the limbic system and plays crucial roles in the formation of memories, particularly long-term ones.

This region is involved in spatial navigation and cognitive maps, allowing us to recognize locations and remember how to get to them. Additionally, it's one of the first areas affected by Alzheimer's disease, which often results in memory loss as an early symptom.

Anatomically, it consists of two main parts: the Ammon's horn (or cornu ammonis) and the dentate gyrus. These structures are made up of distinct types of neurons that contribute to different aspects of learning and memory.

Neuronal plasticity, also known as neuroplasticity or neural plasticity, refers to the ability of the brain and nervous system to change and adapt as a result of experience, learning, injury, or disease. This can involve changes in the structure, organization, and function of neurons (nerve cells) and their connections (synapses) in the central and peripheral nervous systems.

Neuronal plasticity can take many forms, including:

* Synaptic plasticity: Changes in the strength or efficiency of synaptic connections between neurons. This can involve the formation, elimination, or modification of synapses.
* Neural circuit plasticity: Changes in the organization and connectivity of neural circuits, which are networks of interconnected neurons that process information.
* Structural plasticity: Changes in the physical structure of neurons, such as the growth or retraction of dendrites (branches that receive input from other neurons) or axons (projections that transmit signals to other neurons).
* Functional plasticity: Changes in the physiological properties of neurons, such as their excitability, responsiveness, or sensitivity to stimuli.

Neuronal plasticity is a fundamental property of the nervous system and plays a crucial role in many aspects of brain function, including learning, memory, perception, and cognition. It also contributes to the brain's ability to recover from injury or disease, such as stroke or traumatic brain injury.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Ribonucleoproteins (RNPs) are complexes composed of ribonucleic acid (RNA) and proteins. They play crucial roles in various cellular processes, including gene expression, RNA processing, transport, stability, and degradation. Different types of RNPs exist, such as ribosomes, spliceosomes, and signal recognition particles, each having specific functions in the cell.

Ribosomes are large RNP complexes responsible for protein synthesis, where messenger RNA (mRNA) is translated into proteins. They consist of two subunits: a smaller subunit containing ribosomal RNA (rRNA) and proteins that recognize the start codon on mRNA, and a larger subunit with rRNA and proteins that facilitate peptide bond formation during translation.

Spliceosomes are dynamic RNP complexes involved in pre-messenger RNA (pre-mRNA) splicing, where introns (non-coding sequences) are removed, and exons (coding sequences) are joined together to form mature mRNA. Spliceosomes consist of five small nuclear ribonucleoproteins (snRNPs), each containing a specific small nuclear RNA (snRNA) and several proteins, as well as numerous additional proteins.

Other RNP complexes include signal recognition particles (SRPs), which are responsible for targeting secretory and membrane proteins to the endoplasmic reticulum during translation, and telomerase, an enzyme that maintains the length of telomeres (the protective ends of chromosomes) by adding repetitive DNA sequences using its built-in RNA component.

In summary, ribonucleoproteins are essential complexes in the cell that participate in various aspects of RNA metabolism and protein synthesis.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

'Mental retardation, X-linked' is not a term that is used in modern medicine. The term "mental retardation" has been replaced by the term "intellectual disability" to avoid stigmatization and to more accurately describe the condition. Furthermore, the use of terms like "X-linked" to describe a genetic disorder has been replaced by more precise genetic terminology.

The specific condition that you may be referring to is known as "Fragile X syndrome," which is a genetic disorder caused by mutations in the FMR1 gene on the X chromosome. Fragile X syndrome is the most common inherited cause of intellectual disability, affecting about 1 in 4,000 boys and 1 in 8,000 girls.

Individuals with Fragile X syndrome may have a range of symptoms, including intellectual disability that can vary from mild to severe, developmental delays, behavioral and learning challenges, physical features such as a long face, large ears, and flexible joints, and speech and language difficulties. They may also be at increased risk for certain medical conditions, such as seizures and autism spectrum disorder.

It's important to note that the use of outdated terminology can contribute to stigma and discrimination against individuals with intellectual disabilities. It is always best to use person-first language, such as "a person with Fragile X syndrome," to emphasize the individuality and dignity of people with intellectual disabilities.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Immunoprecipitation (IP) is a research technique used in molecular biology and immunology to isolate specific antigens or antibodies from a mixture. It involves the use of an antibody that recognizes and binds to a specific antigen, which is then precipitated out of solution using various methods, such as centrifugation or chemical cross-linking.

In this technique, an antibody is first incubated with a sample containing the antigen of interest. The antibody specifically binds to the antigen, forming an immune complex. This complex can then be captured by adding protein A or G agarose beads, which bind to the constant region of the antibody. The beads are then washed to remove any unbound proteins, leaving behind the precipitated antigen-antibody complex.

Immunoprecipitation is a powerful tool for studying protein-protein interactions, post-translational modifications, and signal transduction pathways. It can also be used to detect and quantify specific proteins in biological samples, such as cells or tissues, and to identify potential biomarkers of disease.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

RNA (Ribonucleic Acid) is a single-stranded, linear polymer of ribonucleotides. It is a nucleic acid present in the cells of all living organisms and some viruses. RNAs play crucial roles in various biological processes such as protein synthesis, gene regulation, and cellular signaling. There are several types of RNA including messenger RNA (mRNA), ribosomal RNA (rRNA), transfer RNA (tRNA), small nuclear RNA (snRNA), microRNA (miRNA), and long non-coding RNA (lncRNA). These RNAs differ in their structure, function, and location within the cell.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Genetically modified animals (GMAs) are those whose genetic makeup has been altered using biotechnological techniques. This is typically done by introducing one or more genes from another species into the animal's genome, resulting in a new trait or characteristic that does not naturally occur in that species. The introduced gene is often referred to as a transgene.

The process of creating GMAs involves several steps:

1. Isolation: The desired gene is isolated from the DNA of another organism.
2. Transfer: The isolated gene is transferred into the target animal's cells, usually using a vector such as a virus or bacterium.
3. Integration: The transgene integrates into the animal's chromosome, becoming a permanent part of its genetic makeup.
4. Selection: The modified cells are allowed to multiply, and those that contain the transgene are selected for further growth and development.
5. Breeding: The genetically modified individuals are bred to produce offspring that carry the desired trait.

GMAs have various applications in research, agriculture, and medicine. In research, they can serve as models for studying human diseases or testing new therapies. In agriculture, GMAs can be developed to exhibit enhanced growth rates, improved disease resistance, or increased nutritional value. In medicine, GMAs may be used to produce pharmaceuticals or other therapeutic agents within their bodies.

Examples of genetically modified animals include mice with added genes for specific proteins that make them useful models for studying human diseases, goats that produce a human protein in their milk to treat hemophilia, and pigs with enhanced resistance to certain viruses that could potentially be used as organ donors for humans.

It is important to note that the use of genetically modified animals raises ethical concerns related to animal welfare, environmental impact, and potential risks to human health. These issues must be carefully considered and addressed when developing and implementing GMA technologies.

Protein synthesis inhibitors are a class of medications or chemical substances that interfere with the process of protein synthesis in cells. Protein synthesis is the biological process by which cells create proteins, essential components for the structure, function, and regulation of tissues and organs. This process involves two main stages: transcription and translation.

Translation is the stage where the genetic information encoded in messenger RNA (mRNA) is translated into a specific sequence of amino acids, resulting in a protein molecule. Protein synthesis inhibitors work by targeting various components of the translation machinery, such as ribosomes, transfer RNAs (tRNAs), or translation factors, thereby preventing or disrupting the formation of new proteins.

These inhibitors have clinical applications in treating various conditions, including bacterial and viral infections, cancer, and autoimmune disorders. Some examples of protein synthesis inhibitors include:

1. Antibiotics: Certain antibiotics, like tetracyclines, macrolides, aminoglycosides, and chloramphenicol, target bacterial ribosomes and inhibit their ability to synthesize proteins, thereby killing or inhibiting the growth of bacteria.
2. Antiviral drugs: Protein synthesis inhibitors are used to treat viral infections by targeting various stages of the viral replication cycle, including protein synthesis. For example, ribavirin is an antiviral drug that can inhibit viral RNA-dependent RNA polymerase and mRNA capping, which are essential for viral protein synthesis.
3. Cancer therapeutics: Some chemotherapeutic agents target rapidly dividing cancer cells by interfering with their protein synthesis machinery. For instance, puromycin is an aminonucleoside antibiotic that can be incorporated into elongating polypeptide chains during translation, causing premature termination and inhibiting overall protein synthesis in cancer cells.
4. Immunosuppressive drugs: Protein synthesis inhibitors are also used as immunosuppressants to treat autoimmune disorders and prevent organ rejection after transplantation. For example, tacrolimus and cyclosporine bind to and inhibit the activity of calcineurin, a protein phosphatase that plays a crucial role in T-cell activation and cytokine production.

In summary, protein synthesis inhibitors are valuable tools for treating various diseases, including bacterial and viral infections, cancer, and autoimmune disorders. By targeting the protein synthesis machinery of pathogens or abnormal cells, these drugs can selectively inhibit their growth and proliferation while minimizing harm to normal cells.

'Drosophila melanogaster' is the scientific name for a species of fruit fly that is commonly used as a model organism in various fields of biological research, including genetics, developmental biology, and evolutionary biology. Its small size, short generation time, large number of offspring, and ease of cultivation make it an ideal subject for laboratory studies. The fruit fly's genome has been fully sequenced, and many of its genes have counterparts in the human genome, which facilitates the understanding of genetic mechanisms and their role in human health and disease.

Here is a brief medical definition:

Drosophila melanogaster (droh-suh-fih-luh meh-lon-guh-ster): A species of fruit fly used extensively as a model organism in genetic, developmental, and evolutionary research. Its genome has been sequenced, revealing many genes with human counterparts, making it valuable for understanding genetic mechanisms and their role in human health and disease.

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptors are ligand-gated ion channels found in the postsynaptic membrane of excitatory synapses in the central nervous system. They play a crucial role in fast synaptic transmission and are responsible for the majority of the fast excitatory postsynaptic currents (EPSCs) in the brain.

AMPA receptors are tetramers composed of four subunits, which can be any combination of GluA1-4 (previously known as GluR1-4). When the neurotransmitter glutamate binds to the AMPA receptor, it causes a conformational change that opens the ion channel, allowing the flow of sodium and potassium ions. This leads to depolarization of the postsynaptic membrane and the generation of an action potential if the depolarization is sufficient.

In addition to their role in synaptic transmission, AMPA receptors are also involved in synaptic plasticity, which is the ability of synapses to strengthen or weaken over time in response to changes in activity. This process is thought to underlie learning and memory.

Cytoplasmic granules are small, membrane-bound organelles or inclusions found within the cytoplasm of cells. They contain various substances such as proteins, lipids, carbohydrates, and genetic material. Cytoplasmic granules have diverse functions depending on their specific composition and cellular location. Some examples include:

1. Secretory granules: These are found in secretory cells and store hormones, neurotransmitters, or enzymes before they are released by exocytosis.
2. Lysosomes: These are membrane-bound organelles that contain hydrolytic enzymes for intracellular digestion of waste materials, foreign substances, and damaged organelles.
3. Melanosomes: Found in melanocytes, these granules produce and store the pigment melanin, which is responsible for skin, hair, and eye color.
4. Weibel-Palade bodies: These are found in endothelial cells and store von Willebrand factor and P-selectin, which play roles in hemostasis and inflammation.
5. Peroxisomes: These are single-membrane organelles that contain enzymes for various metabolic processes, such as β-oxidation of fatty acids and detoxification of harmful substances.
6. Lipid bodies (also called lipid droplets): These are cytoplasmic granules that store neutral lipids, such as triglycerides and cholesteryl esters. They play a role in energy metabolism and intracellular signaling.
7. Glycogen granules: These are cytoplasmic inclusions that store glycogen, a polysaccharide used for energy storage in animals.
8. Protein bodies: Found in plants, these granules store excess proteins and help regulate protein homeostasis within the cell.
9. Electron-dense granules: These are found in certain immune cells, such as mast cells and basophils, and release mediators like histamine during an allergic response.
10. Granules of unknown composition or function may also be present in various cell types.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Long-term potentiation (LTP) is a persistent strengthening of synapses following high-frequency stimulation of their afferents. It is a cellular mechanism for learning and memory, where the efficacy of neurotransmission is increased at synapses in the hippocampus and other regions of the brain. LTP can last from hours to days or even weeks, depending on the type and strength of stimulation. It involves complex biochemical processes, including changes in the number and sensitivity of receptors for neurotransmitters, as well as alterations in the structure and function of synaptic connections between neurons. LTP is widely studied as a model for understanding the molecular basis of learning and memory.

A tremor is an involuntary, rhythmic muscle contraction and relaxation that causes a shaking movement. It's a type of motion disorder that can affect any part of your body, but it most often occurs in your hands. Tremors can be harmless, but they can also be a symptom of a more serious neurological disorder. The cause of tremors isn't always known, but they can be the result of damage to the brain from a stroke, multiple sclerosis, or trauma. Certain medications, alcohol abuse, and drug withdrawal can also cause tremors. In some cases, tremors may be inherited and run in families.

Tremors can be classified based on their cause, appearance, and the situation in which they occur. The two most common types of tremors are:

* Resting tremors, which occur when your muscles are relaxed, such as when your hands are resting on your lap. Parkinson's disease is a common cause of this type of tremor.
* Action tremors, which occur with purposeful movement, such as when you're trying to hold something or when you're using a utensil. Essential tremor, the most common type of tremor, is an action tremor.

Tremors can also be classified based on their frequency (how often they occur) and amplitude (the size of the movement). High-frequency tremors are faster and smaller in amplitude, while low-frequency tremors are slower and larger in amplitude.

In general, tremors are not a life-threatening condition, but they can be embarrassing or make it difficult to perform daily activities. In some cases, tremors may indicate a more serious underlying condition that requires treatment. If you're concerned about tremors or have any questions about your symptoms, it's important to speak with a healthcare provider for an accurate diagnosis and appropriate treatment.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Excitatory amino acid antagonists are a class of drugs that block the action of excitatory neurotransmitters, particularly glutamate and aspartate, in the brain. These drugs work by binding to and blocking the receptors for these neurotransmitters, thereby reducing their ability to stimulate neurons and produce an excitatory response.

Excitatory amino acid antagonists have been studied for their potential therapeutic benefits in a variety of neurological conditions, including stroke, epilepsy, traumatic brain injury, and neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease. However, their use is limited by the fact that blocking excitatory neurotransmission can also have negative effects on cognitive function and memory.

There are several types of excitatory amino acid receptors, including N-methyl-D-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), and kainite receptors. Different excitatory amino acid antagonists may target one or more of these receptor subtypes, depending on their specific mechanism of action.

Examples of excitatory amino acid antagonists include ketamine, memantine, and dextromethorphan. These drugs have been used in clinical practice for various indications, such as anesthesia, sedation, and treatment of neurological disorders. However, their use must be carefully monitored due to potential side effects and risks associated with blocking excitatory neurotransmission.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

Developmental gene expression regulation refers to the processes that control the activation or repression of specific genes during embryonic and fetal development. These regulatory mechanisms ensure that genes are expressed at the right time, in the right cells, and at appropriate levels to guide proper growth, differentiation, and morphogenesis of an organism.

Developmental gene expression regulation is a complex and dynamic process involving various molecular players, such as transcription factors, chromatin modifiers, non-coding RNAs, and signaling molecules. These regulators can interact with cis-regulatory elements, like enhancers and promoters, to fine-tune the spatiotemporal patterns of gene expression during development.

Dysregulation of developmental gene expression can lead to various congenital disorders and developmental abnormalities. Therefore, understanding the principles and mechanisms governing developmental gene expression regulation is crucial for uncovering the etiology of developmental diseases and devising potential therapeutic strategies.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Tertiary protein structure refers to the three-dimensional arrangement of all the elements (polypeptide chains) of a single protein molecule. It is the highest level of structural organization and results from interactions between various side chains (R groups) of the amino acids that make up the protein. These interactions, which include hydrogen bonds, ionic bonds, van der Waals forces, and disulfide bridges, give the protein its unique shape and stability, which in turn determines its function. The tertiary structure of a protein can be stabilized by various factors such as temperature, pH, and the presence of certain ions. Any changes in these factors can lead to denaturation, where the protein loses its tertiary structure and thus its function.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

"Mushroom bodies" is a term that is primarily used in the field of insect neuroanatomy, rather than human or mammalian medicine. They are a pair of prominent structures in the insect brain, located in the olfactory processing center and involved in sensory integration, learning, and memory.

These structures have a distinctive morphology, resembling a mushroom with a large cap-like structure (the calyx) sitting atop a stalk (the peduncle). The calyx receives input from various sensory neurons, while the peduncle and its downstream processes are involved in information processing and output.

While not directly relevant to human medicine, understanding the organization and function of insect nervous systems can provide valuable insights into the evolution of neural circuits and behaviors across species.

Primary Ovarian Insufficiency (POI), also known as Premature Ovarian Failure, is a condition characterized by the cessation of ovarian function before the age of 40. This results in decreased estrogen production and loss of fertility. It is often associated with menstrual irregularities or amenorrhea (absence of menstruation). The exact cause can vary, including genetic factors, autoimmune diseases, toxins, and iatrogenic causes such as chemotherapy or radiation therapy.

Fragile X mental retardation protein (FMRP) is a widely expressed protein coded by the FMR1 gene that binds to G-quadruplex ... as seen in the fragile X mental retardation gene 1 (FMR1) gene and Fragile X Syndrome. The C9orf72 gene codes for the protein ... Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB (November 2001). "Fragile X mental retardation protein targets G ... February 2009). "Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein". The ...
Feng Y, Gutekunst CA, Eberhart DE, Yi H, Warren ST, Hersch SM (Mar 1997). "Fragile X mental retardation protein: ... Several alpha defensin genes are clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 1, is found in ... Arnljots K, Sørensen O, Lollike K, Borregaard N (Nov 1998). "Timing, targeting and sorting of azurophil granule proteins in ... Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. ...
... melanogaster orthologue of the fragile-X mental retardation protein; miRNP, miRNA-protein complex; NR, not reported; Tsn, Tudor ... melanogaster orthologue of the fragile-X mental retardation protein; Tsn, Tudor-staphylococcal nuclease; Vig, vasa intronic ... Ishizuka A, Siomi MC, Siomi H (2002). "A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins ... Caudy AA, Myers M, Hannon GJ, Hammond SM (2002). "Fragile X-related protein and VIG associate with the RNA interference ...
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene. The protein ... 2000). "Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and ... 2001). "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying ... "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Hum. Mol. Genet. 8 ( ...
Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene. The protein ... "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective ... "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Human Molecular ... "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective ...
Hillman MA, Gecz J (2001). "Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription ... The gene is also known as FMR2 (Fragile Mental Retardation 2) after this condition. This gene is located on the long arm of ... gene are associated with X-linked intellectual disability and specifically a syndrome known as Fragile XE mental retardation ( ... "FRAXE and mental retardation". Journal of Medical Genetics. 32 (3): 162-9. doi:10.1136/jmg.32.3.162. PMC 1050310. PMID 7783162 ...
FMR2: Fragile mental retardation 2 (FMR2: synonym AFF2), the protein belongs to the AFF family which currently has four members ... GSPT2 MAGED1 UBE2A Xp11.2 Duplication "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International ... Mental retardation and microcephaly with pontine and cerebellar hypoplasia X-linked alpha thalassemia mental retardation ... January 2010). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine ...
"The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2". The EMBO Journal. 14 (21): 5358 ... an autosomal homolog of the fragile X mental retardation gene". The EMBO Journal. 14 (11): 2401-2408. doi:10.1002/j.1460- ... and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins". Cell. 90 (6): 1013-1021. doi:10.1016/S0092- ... a Novel WD Repeat Protein Component of the SMN Complex That Binds Sm Proteins". Journal of Biological Chemistry. 277 (7): 5631- ...
"Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway". Nature ... Lumaban, J. G.; Nelson, D. L. (30 December 2014). "The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose ... "RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila ... "Fragile X-Related Proteins Regulate Mammalian Circadian Behavioral Rhythms". The American Journal of Human Genetics. 83 (1): 43 ...
"Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway". Nat. Neurosci. ... Protein argonaute-2 is a protein that in humans is encoded by the EIF2C2 gene. This gene encodes a member of the Argonaute ... 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode: ... The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with Dicer1 and play a role ...
"Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties". Molecular ... "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2018-02-25. EMBL-EBI. "SAPS ... The c1orf27 protein is likely cytoplasmic. This was found with 55.5 reliability. The K-NN prediction was k=9/23 and the protein ... Uncharacterized protein Chromosome 1 Open Reading Frame 27 is a protein in humans, encoded by the C1orf27 gene. It is accession ...
ISBN 978-0-14-311310-2. Gatto CL, Broadie K (2008). "Temporal Requirements of the Fragile X Mental Retardation Protein in the ... Vaillend C, Poirier R, Laroche S (2008). "Genes, plasticity and mental retardation". Behav. Brain Res. 192 (1): 88-105. doi: ... Arc is a member of a class of proteins called immediate early genes (IEG) that are rapidly transcribed in response to synaptic ... It is the variety of proteins and effect of the signal that fundamentally lead to the plasticity feature. Activity-dependent ...
Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene. NUFIP1 ... "Entrez Gene: NUFIP1 nuclear fragile X mental retardation protein interacting protein 1". Cabart P, Chew HK, Murphy S (Jul 2004 ... fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. ... fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. ...
Kim SH, Dong WK, Weiler IJ, Greenough WT (March 2006). "Fragile X mental retardation protein shifts between polyribosomes and ... "Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression". ... October 2008). "Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP". Human ... was expressed in cells as a fusion protein with several known stress granule-associated proteins. Proteins in close proximity ...
"A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response". Cell. 157 (4): 869-81 ... The protein FMRP binds to meiotic chromosomes and regulates the dynamics of the DDR machinery during spermatogenesis. FMRP ... FSH stimulates both the production of androgen binding protein (ABP) by Sertoli cells, and the formation of the blood-testis ... The DNA is packaged firstly with specific nuclear basic proteins, which are subsequently replaced with protamines during ...
May 2014). "A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response". Cell. 157 ... Abbeduto L, Hagerman RJ (1997). "Language and communication in fragile X syndrome". Mental Retardation and Developmental ... Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 ... de la Cruz FF (September 1985). "Fragile X syndrome". American Journal of Mental Deficiency. 90 (2): 119-123. PMID 3901755. " ...
"FXR2 - Fragile X mental retardation syndrome-related protein 2 - Homo sapiens (Human) - FXR2 gene & protein". UniProt. Yang J, ... "Protein BLAST: search protein databases using protein query". National Center for Biotechnology Information (NCBI). "Time Tree ... All predicted proteins are involved in mRNA splicing, export, and translation. The SAAL1 protein has a single known isoform ... "protein SAAL1 [Homo sapiens] - Protein - NCBI". National Center for Biotechnology Information (NCBI). Kumar M, Gouw M, Michael ...
Fragile X mental retardation protein (FMR1) acts to regulate translation of specific mRNAs through its binding of eIF4E. FMRP ... Regulation of eIF4E by Partner Proteins Assembly of the eIF4F complex is inhibited by proteins known as eIF4E-binding proteins ... Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, Oostra B, Bagni C (February 2003). "The fragile X syndrome protein ... Also some cellular proteins, the most notable being heat shock proteins, do not require eIF4E in order to be translated. Both ...
"The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction ... Nuclear fragile X mental retardation-interacting protein 2 is a protein that in humans is encoded by the NUFIP2 gene. NUFIP2 ... "Entrez Gene: NUFIP2 nuclear fragile X mental retardation protein interacting protein 2". Rehage, Nina (2018). "Binding of ... fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum Mol ...
"The bantam microRNA is associated with drosophila fragile X mental retardation protein and regulates the fate of germline stem ... Fragile X syndrome disease are implicated to be regulated by the FMRP, an RNA-binding protein. Studies on Drosophila has shown ... the Bantam miRNA plays an important role in the regulation of the protein dFMRP and also genetically interact with the protein ...
2008). "The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic ... Kinesin-like protein KIF3C is a protein that in humans is encoded by the KIF3C gene. It is part of the kinesin family of motor ... Overview of all the structural information available in the PDB for UniProt: O14782 (Human Kinesin-like protein KIF3C) at the ... and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C". ...
... and fragile X mental retardation, autosomal homolog 2 (FXR2) on the complementary strand. There are eight exons, of which exon ... Sex steroid-binding protein (SBP, SSBP) Androgen-binding protein (ABP) Estradiol-binding-protein (EBP) Testosterone-estradiol ... Androgen-Binding+Protein at the U.S. National Library of Medicine Medical Subject Headings (MeSH) Ensembl Gene ref Protein ref ... "Sex Steroid-Binding Protein". Steroid-Protein Interactions II. Springer Science & Business Media. 6 December 2012. p. 198. ISBN ...
This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X ... Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene. The protein encoded by this gene is a member of the ... 2004). "Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?". Am. J. Med. Genet. A. 124 (4): 413-5. ... 2000). "A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation". Nat. Genet ...
Negative Orientation Nuclear Fragile X Mental Retardation Protein Interacting Protein 1 (NUFIp1) shows RNA-binding activity ... than the normal human protein and is mostly conserved within its orthologous proteins. KIAA1704 has protein orthologs extending ... This is an RNA-binding protein associated with Fragile X. Start sites are antisense to start of KIAA1704. Potassium Channel ... KIAA1704, also known as LSR7 (lipopolysaccharide-specific response protein 7), is a protein that in humans is encoded by the ...
... is a p-53 inducible protein and also interacts with the Fragile=X mental retardation protein. The pre-mRNA of this ... fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. ... "A highly conserved protein family interacting with the fragile X genetic condition protein (FMRP) and displaying selective ... Cytoplasmic FMR1-interacting protein 2 is a protein that in humans is encoded by the CYFIP2 gene. Cytoplasmic FMR1 interacting ...
"A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective ... Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene. CYFIP1 has been shown to ... 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode: ... 2004). "Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network". J. Biol. ...
... fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Human ... "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Human Molecular ... "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective ... "The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2". The EMBO Journal. 14 (21): 5358 ...
Implications for Fragile X mental retardation syndrome". J. Biol. Chem. 276 (6): 4357-64. doi:10.1074/jbc.M009629200. PMID ... NRF1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) FactorBook Nrf1 This article ... The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which ... Nuclear respiratory factor 1, also known as Nrf1, Nrf-1, NRF1 and NRF-1, encodes a protein that homodimerizes and functions as ...
Fragile X mental retardation protein deficiency leads to spontaneous mGluR5-dependent internalization of AMPA receptors. ... Cell 107:477-487 (2001). Bear, MF, Huber, KM and Warren, ST: The mGluR theory of fragile X mental retardation. Trends in ... GR and Peters, JF: The fragile X site in somatic cell hybrids: An approach for molecular cloning of fragile sites. Science 237: ... He has shown that this protein is a selective RNA-binding protein and identified FMRP associated mRNAs. Subsequent research in ...
2004). "IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium ... 1996). "Seventh International Workshop on the Fragile X and X-linked Mental Retardation". Am. J. Med. Genet. 64 (1): 1-14. doi: ... Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in ... 2006). "A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family". Am. J. ...
... the loss of the fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that binds to G quartet forming RNA ... Thermodynamics of the fragile X mental retardation protein RGG box interactions with G quartet forming RNA. Zanotti, KJ ; ... Thermodynamics of the fragile X mental retardation protein RGG box interactions with G quartet forming RNA. Login ... Fragile X syndrome, the most common form of inherited mental retardation, is the result of an unstable expansion of a CGG ...
p,The fragile X mental retardation protein (FMRP), the functional absence of which causes fragile X syndrome, is an RNA-binding ... On BC1 RNA and the fragile X mental retardation protein.. Publication Type:. Journal Article ... Animals, Biotinylation, Brain, Fragile X Mental Retardation Protein, Gene Expression Regulation, Immunoprecipitation, Mice, ... Mice, Knockout, Nucleic Acid Hybridization, Protein Biosynthesis, RNA, Messenger, RNA, Small Cytoplasmic, RNA-Binding Proteins ...
The RNA-binding fragile X mental retardation protein (FMRP, also known as FMR1) controls translation and its loss triggers the ... most frequent syndromic form of mental retardation as well as gonadal defects in humans. Here, we demonstrate for the first ... Our data provide novel perspectives for understanding the phenotypes observed in Fragile X patients and support the view that ... Moreover, dFmr1 interacts genetically and biochemically with Aubergine, an Argonaute protein and a key player in this pathway. ...
Fragile X mental retardation protein (FMRP) is a widely expressed protein coded by the FMR1 gene that binds to G-quadruplex ... as seen in the fragile X mental retardation gene 1 (FMR1) gene and Fragile X Syndrome. The C9orf72 gene codes for the protein ... Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB (November 2001). "Fragile X mental retardation protein targets G ... February 2009). "Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein". The ...
... is caused by the absence of the Fragile X Mental Retardation Protein (FMRP) in neurons. In the mouse, the lack of FMRP is ... Overexpression of Dgkκ in neurons is able to rescue the dendritic spine defects of the Fragile X Mental Retardation 1 gene KO ... notably including postsynaptic proteins. This local protein synthesis deregulation is proposed to underlie the observed defects ... How FMRP impacts synaptic protein translation and which mRNAs are most important for the pathology remain unclear. Here we show ...
The AFF2 gene provides instructions for making a protein that is found in the nucleus of cells but whose function is not well ... Hillman MA, Gecz J. Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator ... FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming ... fragile X E mental retardation syndrome protein. *fragile X mental retardation 2 protein ...
Fragile X Mental Retardation Protein Grants and funding * R01 MH115037/MH/NIMH NIH HHS/United States ... fragile X mental retardation-1 (Fmr1)6 or Sh3 and multiple ankyrin repeat domains 3 (Shank3)7. We establish that the social ... 4 with mouse models that are genetically deficient for contactin-associated protein-like 2 (Cntnap2)5, ...
T1 - Molecular functions of the mammalian fragile X mental retardation protein. T2 - insights into mental retardation and ... Molecular functions of the mammalian fragile X mental retardation protein: insights into mental retardation and synaptic ... Molecular functions of the mammalian fragile X mental retardation protein: insights into mental retardation and synaptic ... Molecular functions of the mammalian fragile X mental retardation protein: insights into mental retardation and synaptic ...
82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular ... FMRP is an RNA binding protein whose absence produces pathological manifestations of the fragile-X syndrome. FMRP is a ... FMRP is an RNA binding protein whose absence produces pathological manifestations of the fragile-X syndrome. FMRP is a ... We named this protein 82-FIP (82-kD FMRP Interacting Protein). FMRP interacts with 82-FIP through a novel interaction motif ...
Dive into the research topics of A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage ... A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response. ...
Protein (1 molecule). A. 1. Fragile X Mental Retardation Syndrome-related Protein 2 ... FRAGILE X MENTAL RETARDATION SYNDROME-RELATED PROTEIN 2 ...
Fragile X syndrome (FXS) is caused by the loss of the FMR1 gene product FMRP (fragile X mental retardation protein) (Verkerk et ... Fragile X syndrome (FXS) is caused by loss of the FMR1 gene product FMRP (fragile X mental retardation protein), a repressor of ... 2004) Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. Proc ... 2001) The fragile X mental retardation protein inhibits translation via interacting with mRNA. Nucleic Acids Res 29:2276-2283. ...
The C-terminal cytoplasmic domain of KCNT1 interacts with a protein network, including the Fragile X mental retardation protein ... Fragile X mental retardation protein controls gating of the sodium-activated potassium channel slack. Nat Neurosci 2010; 13: ...
2009) Fragile X mental retardation protein in learning-related synaptic plasticity. Mol Cells 28:501-507, doi:10.1007/s10059- ... 2000) Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein. Mol Cell Biol ... 2008) Drosophila fragile X mental retardation protein developmentally regulates activity-dependent axon pruning. Development ... the fragile-X mental retardation protein, increases sleep intensity during the day. Our results show that sleep is not ...
Here we report a class of mRNA granules in human neuronal processes that are enriched in the nuclear cap-binding protein ... Here we report a class of mRNA granules in human neuronal processes that are enriched in the nuclear cap-binding protein ... The existence of mRNAs retaining both nuclear cap binding protein and EJC in the distal sites of neuronal processes suggests ... The existence of mRNAs retaining both nuclear cap binding protein and EJC in the distal sites of neuronal processes suggests ...
Depletion of the fragile X mental retardation protein in embryonic stem cells alters the kinetics of neurogenesis. Stem Cells ( ... Table 1 Protein levels of cytokine, chemokine, and growth factors in the hippocampus at PND 51-55.. Full size table. ... Glial fibrillary acidic protein-expressing neural progenitors give rise to immature neurons via early intermediate progenitors ... and growth factors in hippocampal tissue from PND 51-55 subjects using a Bio-Plex ProTM assay that quantifies protein levels of ...
Fragile X syndrome, affecting 100,000 Americans, is the most common inherited cause of mental retardation and autism. New ... They have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, ... countering the effects of the fragile X mutation. ... Scientists have corrected key symptoms of mental retardation ... Individuals with FXS have mutations in the X chromosomes FMR1 gene, which encodes the fragile X mental retardation protein, ...
Fragile X Mental Retardation Protein positively regulates PKA anchor Rugose and PKA activity to control actin assembly in ... Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans-Synaptic Signaling Mediating ...
Upon mTORC1 inhibition, NUFIP1 (nuclear fragile X mental retardation-interacting protein 1) redistributes from the nucleus to ... Upon mTORC1 inhibition, NUFIP1 (nuclear fragile X mental retardation-interacting protein 1) redistributes from the nucleus to ... Upon mTORC1 inhibition, NUFIP1 (nuclear fragile X mental retardation-interacting protein 1) redistributes from the nucleus to ... Multiple protein complexes regulate the Rag GTPases in response to amino acids, including GATOR1, a GTPase activating protein ...
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP ... We identify the regulator of G protein signaling 6 (RGS6) as a key factor that mediates running impact on adult-born neurons. ... correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of Fragile X ... correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of Fragile X ...
Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci. ... The Dutch-Belgian Fragile X Consortium, 1994. Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch- ... a well-studied animal model for fragile-X syndrome (The Dutch-Belgian Fragile X Consortium, 1994). We compared the data from ... Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome. Sci Rep 6, 30769. doi:10.1038/srep30769. ...
FMR1 is a gene in humans which encodes a protein called fragile X mental retardation protein. This protein is important for ... Key Words: Fragile X syndrome, Intellectual disability, Fragile X mental retardation 1, CGG repeat, Indonesia ... Table 1 Fragile X mental retardation 1 gene analysis of index fragile X syndrome subjects. ... Oostra BA, Willemsen R. The X chromosome and fragile X mental retardation. Cytogenet Genome Res. 2002;99:257-264. [PubMed] [DOI ...
The FMR1 gene provides instructions for making a protein called FMRP. Learn about this gene and related health conditions. ... Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X ... Fragile X syndrome. Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the ... The abnormal or missing protein disrupts nervous system functions, leading to the signs and symptoms of fragile X syndrome. ...
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X ... 7 Some individuals with the premutation have a mild-to-moderate deficit of fragile X-related mental retardation protein (FMRP). ... Fragile X-associated tremor/ataxia syndrome-an older face of the fragile X gene. Nat Clin Pract Neurol. 2007;3(2):107-112. ... The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn. 2005;57(1):53-60. ...
The enzyme binds to the fragile X mental retardation protein, or FMRP. ...
... fragile X mental retardation, autosomal homolog 2 (Fxr2) P = 0.0004; protein kinase C, beta (Prkcb) P = 0.001; gamma- ... Bear MF, Huber KM, Warren ST: The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004, 27: 370-377. 10.1016/j. ... Nrxn3 encodes neuronal adhesion proteins of the Neurexin (NRXN) family. NRXNs are presynaptic cell adhesion proteins that form ... Mouse mitochondrial ribosomal protein L41 (Mrpl41) was used as a standard for quantification as previously shown [30]. Primers ...
We have discovered that fragile X mental retardation protein (FMRP) is an essential regulator of neurogenesis. We showed that ... Post-transcriptional Regulation of Neural Stem Cells and Learning by Fragile X Proteins. *Importar al calendari de lOutlook ... Post-transcriptional Regulation of Neural Stem Cells and Learning by Fragile X Proteins impartida per la Prof. Xinyu Zhao, ... In addition, although many studies are focusing on FMRP, the functions of two related proteins, FXR1 and FXR2, are unclear. Our ...
This defect is thought to be responsible for Fragile-X syndrome, the most common inherited form of mental retardation. This ... The detection of proteins is fundamental to essentially all biomedical research. Current strategies to detect proteins include ... To accelerate research in this field, new protein capture tools for the detection and identification of specific proteins are ... for detecting and quantifying proteins. The sensors will be used to monitor protein expression in cells in real time. The ...
  • Fragile X syndrome, the most common form of inherited mental retardation, is the result of an unstable expansion of a CGG trinucleotide repeat in the 5′ UTR of the fragile X mental retardation-1 (FMR1) gene. (auckland.ac.nz)
  • The fragile X mental retardation protein (FMRP), the functional absence of which causes fragile X syndrome, is an RNA-binding protein that has been implicated in the regulation of local protein synthesis at the synapse. (ulaval.ca)
  • Mutations in the AFF2 gene cause fragile XE syndrome, a condition characterized by mild intellectual disability and learning difficulties. (medlineplus.gov)
  • Rarely, small deletions of genetic material from the AFF2 gene are associated with fragile XE syndrome, although how these deletions affect the protein and lead to intellectual disability is unknown. (medlineplus.gov)
  • FMRP is an RNA binding protein whose absence produces pathological manifestations of the fragile-X syndrome. (unipv.it)
  • Fragile X syndrome (FXS) is caused by loss of the FMR1 gene product FMRP (fragile X mental retardation protein), a repressor of mRNA translation. (jneurosci.org)
  • They have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation. (sciencedaily.com)
  • Fragile X syndrome, affecting 100,000 Americans, is the most common inherited cause of mental retardation and autism. (sciencedaily.com)
  • There is currently no treatment or therapy for fragile X syndrome, whose symptoms include mental retardation, epilepsy, and abnormal body growth. (sciencedaily.com)
  • These findings have major therapeutic implications for fragile X syndrome and autism," said study lead author Mark F. Bear, director of the Picower Institute and Picower Professor of Neuroscience at MIT. (sciencedaily.com)
  • Lysosomal function is critical for organismal homeostasis-mutations in genes encoding lysosomal proteins cause severe human disorders known as lysosomal storage diseases, and lysosome dysfunction is implicated in age-associated diseases including cancer, neurodegeneration and metabolic syndrome. (stanford.edu)
  • Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). (wisc.edu)
  • To investigate the prevalence of fragile X syndrome (FXS) in intellectually disabled male and female Indonesians. (wjgnet.com)
  • Here we combined computational simulations with analysis of in vivo 2-photon Ca 2+ imaging data from somatosensory cortex of Fmr1 knock-out (KO) mice, a model of Fragile-X Syndrome, to test the E/I imbalance theory. (biorxiv.org)
  • First proposed as a model for autism ( Rubenstein and Merzenich, 2003 ), the concept has since been applied to many other brain disorders, including Schizophrenia, Rett syndrome, fragile-X syndrome, tuberous sclerosis, and Angelman Syndrome. (biorxiv.org)
  • As a result, they may have mild versions of the physical features seen in fragile X syndrome (described above), such as prominent ears, and may experience emotional problems such as anxiety or depression . (medlineplus.gov)
  • Men, and some women, with an FMR1 gene premutation are at increased risk of developing a disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). (medlineplus.gov)
  • Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. (medlineplus.gov)
  • The awareness of psychiatric disability in the fragile X premutation (55-200 CGG repeats on Xq27.3) is low because these problems are not as obvious as in the full-mutation fragile X syndrome. (psychiatrist.com)
  • 8 The level of FMRP decreases with increased CGG repeat number more evident in the upper end of the premutation range, leading to physical and behavioral features similar to fragile X syndrome. (psychiatrist.com)
  • Our work unveils novel biological pathways important for fragile X syndrome. (imim.es)
  • The RNA-binding protein FMR1 has a key role in the neurodevelopmental disorder fragile X syndrome, but the RNAs targeted by the protein were mostly unknown. (natureasia.com)
  • Summary: Researchers report functional alterations in L-type calcium channels were detected in models of Fragile X syndrome. (neurosciencenews.com)
  • Functional changes in the voltage-dependent L-type calcium channels were detected in fragile X syndrome (FraX), the disease model used in the study. (neurosciencenews.com)
  • The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed FMRP function is implicated in several forms of human psychopathology. (neurosciencenews.com)
  • In Fragile X syndrome, excessive repeats of a three-nucleotide sequence leads to epigenetic silencing of the gene containing those repeats, the fragile X mental retardation protein FMRP1. (bioworld.com)
  • Using neural stem cells as model systems, we are investigating the molecular mechanisms that regulate neuronal development during postnatal period and their implications in human neurodevelopmental disorders such as Rett Syndrome, Autism, and Fragile X syndrome. (wisc.edu)
  • A Phase 2 trial of OV101 in males with Fragile X syndrome aged 13 to 22 is planned for later in 2018. (empr.com)
  • OV101 has previously been granted Orphan Drug status for Fragile X and Fast Track status for Angelman syndrome. (empr.com)
  • Ovid Therapeutics), a delta (δ)-selective GABA A receptor agonist, for the treatment of Fragile X syndrome. (empr.com)
  • Fragile X is a rare inherited syndrome of intellectual disability and autism. (empr.com)
  • The Company has completed a Phase 1 safety study in adults and children who have Fragile X and Angelman syndrome, which proved successful. (empr.com)
  • There is currently no FDA-approved treatments for Fragile X syndrome. (empr.com)
  • Noonan syndrome and related disorders are caused by mutations in genes encoding for proteins of the RAS-ERK1/2 signaling pathway, which affect development by enhanced ERK1/2 activity. (sdbonline.org)
  • This study identified that the protein most commonly affected in Noonan syndrome, the phosphatase SHP2, known in Drosophila as corkscrew (CSW) , controls life span, triglyceride levels, and metabolism without affecting ERK signaling pathway. (sdbonline.org)
  • Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. (sdbonline.org)
  • Fragile X syndrome (FXS) is likewise characterized by elevated MAPK/ERK signaling. (sdbonline.org)
  • Fragile X syndrome, also termed Martin-Bell syndrome or marker X syndrome, is the most common cause of inherited mental retardation, intellectual disability, and autism and is the second most common cause of genetically associated mental deficiencies, after trisomy 21. (medscape.com)
  • Conservative estimates are that fragile X syndrome affects approximately 1 in 2500-4000 males and 1 in 7000-8000 females. (medscape.com)
  • The criterion standard diagnostic test for fragile X syndrome involves molecular genetic techniques that detect the FMR1 gene. (medscape.com)
  • The phenotype of fragile X syndrome is difficult to diagnose in prepubertal children. (medscape.com)
  • Nurul Hanis Nadia (1918816) Puteri Nurkhalisah (1914790) Nur Syahida Adellina (1910028) Nur Sakinah (1918198) Sarah Muneera (1911646) Prepared by: Fragile X Syndrome What is Fragile X Syndrome (FXS)? (powtoon.com)
  • It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME. (bvsalud.org)
  • These findings reveal a FMRP-dependent control pathway for neuron-to-glia communication in neuronal pruning, identifying potential molecular mechanisms for devising fragile X syndrome treatments. (bvsalud.org)
  • Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study. (cdc.gov)
  • Fragile X syndrome (FXS), is caused by changes in the Fragile X Messenger Ribonucleoprotein 1 ( FMR1) gene. (cdc.gov)
  • Fragile X syndrome (FXS) is one of the most common causes of inherited intellectual disability. (cdc.gov)
  • Fragile X syndrome often results from a full mutation of the FMR1 gene. (cdc.gov)
  • Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a disorder of the nervous system that can cause tremors and problems with walking, balance (also called ataxia), memory, and mood disorders among older adults. (cdc.gov)
  • The abnormal hypermethylation of the expanded CGG repeats causes the transcriptional silencing of the FMR1 gene and, consequently, the loss of the fragile X mental retardation protein (FMRP). (auckland.ac.nz)
  • The RNA-binding fragile X mental retardation protein (FMRP, also known as FMR1) controls translation and its loss triggers the most frequent syndromic form of mental retardation as well as gonadal defects in humans. (hal.science)
  • We compared an environmental model of neurodevelopmental disorders in which mice were exposed to maternal immune activation (MIA) during embryogenesis 3,4 with mouse models that are genetically deficient for contactin-associated protein-like 2 (Cntnap2) 5 , fragile X mental retardation-1 (Fmr1) 6 or Sh3 and multiple ankyrin repeat domains 3 (Shank3) 7 . (nih.gov)
  • Here, we use an in vitro assay of protein synthesis in the hippocampus of male Fmr1 knock-out (KO) mice to explore the molecular mechanisms involved in this core biochemical phenotype under conditions where aberrant synaptic physiology has been observed. (jneurosci.org)
  • We find that elevated basal protein synthesis in Fmr1 KO mice is selectively reduced to wild-type levels by acute inhibition of mGluR5 or ERK1/2, but not by inhibition of mTOR (mammalian target of rapamycin). (jneurosci.org)
  • A strong rationale for taking this approach is that slice has been shown to accurately reproduce the in vivo phenotype of elevated basal protein synthesis in the Fmr1 KO hippocampus (cf. (jneurosci.org)
  • Our data suggest that elevated protein synthesis in the Fmr1 KO is due to saturation of mRNA translation downstream of the MAP kinase ERK1/2 which is basally activated by mGluR5. (jneurosci.org)
  • Individuals with FXS have mutations in the X chromosome's FMR1 gene, which encodes the fragile X mental retardation protein, FMRP. (sciencedaily.com)
  • The FMR1 gene provides instructions for making a protein called FMRP. (medlineplus.gov)
  • A trinucleotide repeat expansion in the FMR1 gene increases a woman's risk of developing a condition called fragile X-associated primary ovarian insufficiency (FXPOI). (medlineplus.gov)
  • In addition, the repeats make producing protein from the blueprint more difficult, and consequently, some people with the FMR1 gene premutation have lower than normal amounts of FMRP. (medlineplus.gov)
  • Mutations occur in the FMR1 gene which can block expression of the Fragile X Mental Retardation Protein (FMRP), an important protein in GABA synthesis. (empr.com)
  • In addition to FXS, there are other fragile X-associated disorders that are caused by changes in FMR1 . (cdc.gov)
  • The FMR1 gene usually makes a protein called FMRP that is needed for brain development. (cdc.gov)
  • People who have other fragile X-associated disorders (not FXS) have changes in their FMR1 gene but usually make some FMRP. (cdc.gov)
  • Fragile X-associated disorders can be caused by this type of partial change, called a premutation of the FMR1 gene. (cdc.gov)
  • People with a premutation of the FMR1 gene do not have FXS but may have another fragile X-associated disorder. (cdc.gov)
  • Other studies show that the protein can attach to specific regions of messenger RNA (mRNA), which is a chemical cousin of DNA that serves as the genetic blueprint for protein production. (medlineplus.gov)
  • It is thought that the AFF2 protein helps control the process by which the mRNA blueprint is cut and rearranged to produce different versions of proteins (alternative splicing). (medlineplus.gov)
  • Here we report a class of mRNA granules in human neuronal processes that are enriched in the nuclear cap-binding protein complex (CBC) and exon junction complex (EJC) core components, Y14 and eIF4AIII. (frontiersin.org)
  • Researchers believe that FMRP acts as a shuttle within cells by transporting molecules called messenger RNA (mRNA), which serve as the genetic blueprint for making proteins. (medlineplus.gov)
  • FMRP likely carries mRNA molecules from the nucleus to areas of the cell where proteins are assembled. (medlineplus.gov)
  • FMRP also helps control when the instructions in these mRNA molecules are used to build proteins, some of which may be important for functioning of the nerves, testes, or ovaries. (medlineplus.gov)
  • It is thought that the mRNA attaches (binds) to other proteins and keeps them from performing their functions. (medlineplus.gov)
  • The abnormal mRNA has been found in clumps of proteins and mRNA (intranuclear inclusions) that are found in brain and nerve cells in people with FXTAS. (medlineplus.gov)
  • The Nobel Prize-winning modification that prevents the innate immune system from recognizing injected mRNA as foreign and blocking transcription of the protein it. (bioworld.com)
  • Furthermore, PKP3 engages with the RNA-binding protein FXR1 to stabilize OTUB1 mRNA, and OTUB1 elevates PD-L1 abundance by facilitating its deubiquitination. (biomedcentral.com)
  • Fragile X Mental Retardation Protein (FMRP) binds csw mRNA and neuronal Csw protein is elevated in Drosophila fragile X mental retardation 1 (dfmr1) nulls. (bvsalud.org)
  • More than 70 disease-causing mutations have been described, the majority being stop codon mutations, splice mutations, or small ins/del-producing truncations of the protein and/or non-sense-mediated decay of mutant mRNA. (medscape.com)
  • FMRP is an RNA binding protein that binds to G quartet forming RNA using its RGG box motif. (auckland.ac.nz)
  • The enzyme binds to the fragile X mental retardation protein, or FMRP. (spectrumnews.org)
  • A fly-human cross-species comparison of the phosphoinositide-3-kinase (PI3K) interactome was conducted in a Drosophila S2R+ cell line and several NSCLC and human multiple myeloma cell lines to identify conserved interacting proteins to PI3K, a critical signaling regulator of the AKT pathway. (sdbonline.org)
  • These data revealed an unexpected direct binding of Corkscrew, the Drosophila ortholog of the non-receptor protein tyrosine phosphatase type II (SHP2) to the Pi3k21B (p60) regulatory subunit of PI3K (p50/p85 human ortholog) but no association with Pi3k92e , the human ortholog of the p110 catalytic subunit. (sdbonline.org)
  • The p85-SHP2 association was validated in human cell lines, and formed a ternary regulatory complex with GRB2-associated-binding protein 2 (human GAB2 but not Drosophila Dos ). (sdbonline.org)
  • Neuronal RNAi of Drosophila fragile X mental retardation 1 (dfmr1) elevates mad transcript levels and increases pMad signaling. (bvsalud.org)
  • Through this interaction, mRNAs and their associative proteins form messenger ribonucleoprotein particles (mRNPs) that are actively transported along the cytoskeleton to intracellular destinations. (frontiersin.org)
  • Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a cause of infertility and early menopause among adult women. (cdc.gov)
  • One source of confusion may be that proxy measures of protein synthesis, such as mGluR-LTD or phosphorylation of signaling molecules, have been used in intact hippocampal slice preparations, whereas metabolic labeling experiments have been performed in synaptoneurosome preparations of cortex that are not easily related to altered hippocampal synaptic plasticity. (jneurosci.org)
  • In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function. (healthywomen.org)
  • The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
  • We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
  • Many gene mutations related to the autism spectrum disorders reside in a gene that produces a protein relevant to synapses, or is important for the connections between neurons. (neurosciencenews.com)
  • Most genetic conditions are the result of mutations in the DNA, which alter the instructions for making a given protein. (healthywomen.org)
  • Results Protein-altering de novo mutations in PURA were identified in four subjects. (bmj.com)
  • Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
  • Identification of a novel inhibitor of mitogen-activated protein kinase kinase. (rndsystems.com)
  • Until the recent changes in the Diagnostic and Statistical Manual (DSM) (a psychiatric handbook used by doctors, therapists, and others in the U.S. to diagnose mental, behavioral, and developmental disorders), 1 a person could not receive a diagnosis of both ASD and ADHD, so the clinician normally chose one or the other. (autismsciencefoundation.org)
  • The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. (stanford.edu)
  • Overview of Mental Health Disorders Children and Adolescents Several important mental health disorders, such as depression, anxiety disorders, and eating disorders, often start during childhood and adolescence. (msdmanuals.com)
  • According to the metabotropic glutamate receptor (mGluR) theory of FXS, excessive protein synthesis downstream of mGluR5 activation causes the synaptic pathophysiology that underlies multiple aspects of FXS. (jneurosci.org)
  • Scientists have corrected key symptoms of mental retardation and autism in mice. (sciencedaily.com)
  • Researchers at MIT's Picower Institute for Learning and Memory have corrected key symptoms of mental retardation and autism in mice. (sciencedaily.com)
  • Insights gained by this study suggest novel therapeutic approaches, not only for fragile X but also for autism and mental retardation of unknown origin," Bear said. (sciencedaily.com)
  • Autism spectrum disorder (ASD) defines a complex group of neurodevelopmental disabilities characterized by a wide range of impairments in social and communicative skills, stereotyped behaviors, and restricted mental flexibility [ 1 ]. (biomedcentral.com)
  • This research provides further evidence that people with autism and their family members need thorough evaluations for mental health issues. (autismsciencefoundation.org)
  • Unfortunately, people with autism have a higher rate of unmet mental health needs than other groups 10 . (autismsciencefoundation.org)
  • These proteins are then what differentiate autism from schizophrenia. (autismsciencefoundation.org)
  • Abnormal spines have long been associated with various forms of human mental retardation. (sciencedaily.com)
  • Some researchers speculate that the proteins found in the inclusions cannot perform their normal functions, which could lead to the signs and symptoms of FXTAS. (medlineplus.gov)
  • Heart muscle cells die en masse after injury, yet the adult mammalian heart retains little capacity to regenerate them. (natureasia.com)
  • These results suggest that the ERK1/2 pathway, and other neurotransmitter systems that stimulate protein synthesis via ERK1/2, represent additional therapeutic targets for FXS. (jneurosci.org)
  • Although it is now clear that mGluR5 participates in the pathogenesis of FXS, at least in animal models, it is still poorly understood how Gp1 mGluRs trigger protein synthesis and how this process is altered in the absence of FMRP to disrupt synaptic function. (jneurosci.org)
  • Fragile X is a disorder of excess-excess synaptic connectivity, protein synthesis, memory extinction, body growth, excitability-and remarkably, all these excesses can be reduced by reducing mGluR5," said Bear, a Howard Hughes Medical Institute investigator. (sciencedaily.com)
  • The existence of mRNAs retaining both nuclear cap binding protein and EJC in the distal sites of neuronal processes suggests that some localized mRNAs have not yet undergone the "very first translation," which contribute to the spatio-temporal regulation of gene expression. (frontiersin.org)
  • Our recent data point to important roles of these two proteins in neurogenesis and neuronal development and their potential synergistic effects with FMRP. (imim.es)
  • Neuronal dfmr1 and mad RNAi both elevate phospho-protein kinase B (pAkt) and delay neuron removal but cause opposite effects on InR expression. (bvsalud.org)
  • Gecz J. The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. (medlineplus.gov)
  • Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B. Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. (medlineplus.gov)
  • Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. (wjgnet.com)
  • We identify the regulator of G protein signaling 6 (RGS6) as a key factor that mediates running impact on adult-born neurons. (wisc.edu)
  • Tet proteins regulate gene expression by removing methyl groups from DNA bases. (natureasia.com)
  • Those with schizophrenia and bipolar depression express different isoforms, or end products of gene expression, which markedly changes what proteins are made 15 . (autismsciencefoundation.org)
  • The research team found that a 50 percent reduction in mGluR5 fixed multiple defects in the fragile X mice. (sciencedaily.com)
  • Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans -Synaptic Signaling Mediating Synaptic Remodeling. (nih.gov)
  • Protein kinase C regulates human pluripotent stem cell self-renewal. (rndsystems.com)
  • Fragile X mental retardation protein (FMRP) regulates neuron-to-glia signaling to drive glial phagocytosis for targeted neuron pruning. (bvsalud.org)
  • We find that FMRP acts in a mothers against decapentaplegic (Mad)-insulin receptor (InR)-protein kinase B (Akt) pathway to regulate pretaporter (Prtp) and amyloid precursor protein-like (APPL) signals directing this glial clearance. (bvsalud.org)
  • In addition, although many studies are focusing on FMRP, the functions of two related proteins, FXR1 and FXR2, are unclear. (imim.es)
  • Our results also indicate that the G quartet RNA recognition is not a general feature of the RGG box motif but rather carries some sequence, protein and/or RNA, specificity. (auckland.ac.nz)
  • This project aims to develop a revolutionary screening platform that will allow for the rapid isolation of hundreds of high affinity and specificity synthetic ligands for proteins in a highly parallel fashion. (nih.gov)
  • Specificity and mechanism of action of some commonly used protein kinase inhibitors. (rndsystems.com)
  • In this previous study, 87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. (wjgnet.com)
  • Heterogeneous population of RNA granules serve as motile units to translocate, store, translate, and degrade mRNAs in the dendrites contain cis -elements and trans -acting factors such as RNA-binding proteins and microRNAs to convey stimulus-, transcript-specific local translation. (frontiersin.org)
  • Optogenetic upregulation of cyclic adenosine monophosphate during the day increases sleep intensity at night, whereas loss of function of a molecule involved in synaptic pruning, the fragile-X mental retardation protein, increases sleep intensity during the day. (jneurosci.org)
  • Moreover, dFmr1 interacts genetically and biochemically with Aubergine, an Argonaute protein and a key player in this pathway. (hal.science)
  • The C-terminal cytoplasmic domain of KCNT1 interacts with a protein network, including the Fragile X mental retardation protein, thus stimulating the KCNT1 channel. (nature.com)
  • We have discovered that fragile X mental retardation protein (FMRP) is an essential regulator of neurogenesis. (imim.es)
  • FraX is the most common cause of genetic mental retardation and a variant of the autistic spectrum. (neurosciencenews.com)
  • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. (medlineplus.gov)
  • Based on our mechanistic discoveries, we have developed a number of therapeutic approaches that can alleviate learning impairment in fragile X mouse models. (imim.es)
  • The previously used term mental retardation has acquired an undesirable social stigma, so health care practitioners have replaced it with the term intellectual disability . (msdmanuals.com)
  • FXTAS is characterized by progressive problems with movement (ataxia), tremor, memory loss, reduced sensation in the lower extremities (peripheral neuropathy), and mental and behavioral changes. (medlineplus.gov)
  • Open access research for "Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein" by Claudia Danesi, Venkat Swaroop Achuta, Padraic Corcoran, Ulla-Kaisa Peteri, Giorgio Turconi, Nobuaki Matsui, Ilyas Albayrak, Veronika Rezov, Anders Isaksson, and Maija L. Castrén in Stem Cell Reports . (neurosciencenews.com)
  • Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. (natureasia.com)
  • Bensaid M, Melko M, Bechara EG, Davidovic L, Berretta A, Catania MV, Gecz J, Lalli E, Bardoni B. FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. (medlineplus.gov)
  • A RNA-binding protein that is found predominately in the CYTOPLASM. (bvsalud.org)
  • It is unclear how a shortage of this protein leads to problems with intellectual functioning. (medlineplus.gov)
  • The AFF2 gene provides instructions for making a protein that is found in the nucleus of cells but whose function is not well understood. (medlineplus.gov)
  • Another hypothesis is that the inclusions could cause the death of nerve cells important for movement and mental function. (medlineplus.gov)
  • This proposal tests the paradigm-shifting hypothesis that mitochondrial-derived proteins (MPDs) play a previously unappreciated role in the regulation of cellular and organismal function, and that disregulation of MDPs is important in disease development. (nih.gov)
  • DNA is a chemical message to produce a protein, which has a specific function in the body. (healthywomen.org)
  • If something goes wrong with an essential protein, the consequences can be severe. (healthywomen.org)
  • 1 , 2 , 6 , 7 Some individuals with the premutation have a mild-to-moderate deficit of fragile X-related mental retardation protein (FMRP). (psychiatrist.com)
  • 2016) . A cross-species study of PI3K protein-protein interactions reveals the direct interaction of P85 and SHP2 . (sdbonline.org)
  • Identification of the gene FMR2, associated with FRAXE mental retardation. (medlineplus.gov)
  • To accelerate research in this field, new protein capture tools for the detection and identification of specific proteins are needed. (nih.gov)
  • These results also suggest the coupling of RACK1 to muscle unfolded protein response during SC activation. (sdbonline.org)
  • Validation experiments with knockdown of GAB2 and Far-Western blots proved the direct interaction of SHP2 with p85, independent of adaptor proteins and transfected FLAG-p85 provided evidence that SHP2 binding on p85 occurred on the SH2 domains. (sdbonline.org)