A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.
A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue.
An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
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.
A coumarin derivative possessing properties as a spasmolytic, choleretic and light-protective agent. It is also used in ANALYTICAL CHEMISTRY TECHNIQUES for the determination of NITRIC ACID.
Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
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.
One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.
An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
The N-acetyl derivative of glucosamine.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The rate dynamics in chemical or physical systems.
Established cell cultures that have the potential to propagate indefinitely.
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
T-cell receptors composed of CD3-associated alpha and beta polypeptide chains and expressed primarily in CD4+ or CD8+ T-cells. Unlike immunoglobulins, the alpha-beta T-cell receptors recognize antigens only when presented in association with major histocompatibility (MHC) molecules.
Identification of genetic carriers for a given trait.
A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.
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.
Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.
The sum of the weight of all the atoms in a molecule.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
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.
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
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.
An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.
Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.
Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

Biochemical consequences of mutations causing the GM2 gangliosidoses. (1/11)

The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination of three gene products. Whereas two of these proteins are the alpha- (HEXA gene) and beta- (HEXB) subunits of beta-hexosaminidase A, the third is a small glycolipid transport protein, the GM2 activator protein (GM2A), which acts as a substrate specific co-factor for the enzyme. A deficiency of any one of these proteins leads to storage of the ganglioside, primarily in the lysosomes of neuronal cells, and one of the three forms of GM2-gangliosidosis, Tay-Sachs disease, Sandhoff disease or the AB-variant form. Studies of the biochemical impact of naturally occurring mutations associated with the GM2 gangliosidoses on mRNA splicing and stability, and on the intracellular transport and stability of the affected protein have provided some general insights into these complex cellular mechanisms. However, such studies have revealed little in the way of structure-function information on the proteins. It appears that the detrimental effect of most mutations is not specifically on functional elements of the protein, but rather on the proteins' overall folding and/or intracellular transport. The few exceptions to this generalization are missense mutations at two codons in HEXA, causing the unique biochemical phenotype known as the B1-variant, and one codon in both the HEXB and GM2A genes. Biochemical characterization of these mutations has led to the localization of functional residues and/or domains within each of the encoded proteins.  (+info)

Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy. (2/11)

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Immunologic glycosphingolipidomics and NKT cell development in mouse thymus. (3/11)

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DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice. (4/11)

Dorsal root ganglion (DRG) neuron dysfunction occurs in a variety of sensory neuronopathies for which there are currently no satisfactory treatments. Here we describe the development of a strategy to target therapeutic genes to DRG neurons for the treatment of these disorders. We genetically modified an adenovirus (Ad) to generate a helper virus (HV) that was detargeted for native adenoviral tropism and contained DRG homing peptides in the adenoviral capsid fiber protein; we used this HV to generate DRG-targeted helper-dependent Ad (HDAd). In mice, intrathecal injection of this HDAd produced a 100-fold higher transduction of DRG neurons and a markedly attenuated inflammatory response compared with unmodified HDAd. We also injected HDAd encoding the beta subunit of beta-hexosaminidase (Hexb) into Hexb-deficient mice, a model of the neuronopathy Sandhoff disease. Delivery of the DRG-targeted HDAd reinstated neuron-specific Hexb production, reversed gangliosidosis, and ameliorated peripheral sensory dysfunction. The development of DRG neuron-targeted HDAd with proven efficacy in a preclinical model may have implications for the treatment of sensory neuronopathies of diverse etiologies.  (+info)

Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits. (5/11)

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Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease. (6/11)

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Thymic alterations in GM2 gangliosidoses model mice. (7/11)

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Therapeutic potential of intracerebroventricular replacement of modified human beta-hexosaminidase B for GM2 gangliosidosis. (8/11)

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Gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of certain complex lipids called gangliosides in the brain and nervous system. This buildup is due to a deficiency of specific enzymes needed to break down these substances. The three main types of gangliosidoses are:

1. Type 1 - Infantile Neurovisceral or Tay-Sachs Disease: Characterized by the absence of the enzyme hexosaminidase A, leading to severe neurological symptoms such as muscle weakness, blindness, and developmental delay in early infancy, with rapid progression and death usually occurring before age 4.
2. Type 2 - Juvenile or Subacute GM1 Gangliosidosis: Caused by a deficiency of the enzyme beta-galactosidase, resulting in progressive neurological symptoms such as motor and cognitive decline, beginning between ages 6 months and 2 years. Affected individuals may survive into adolescence or early adulthood.
3. Type 3 - Adult or Chronic GM1 Gangliosidosis: Characterized by a deficiency of beta-galactosidase, leading to milder neurological symptoms that appear in late childhood, adolescence, or even adulthood. The progression is slower compared to the other types, and life expectancy varies widely.

Gangliosidoses are autosomal recessive disorders, meaning an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.

Lipidoses are a group of genetic disorders characterized by abnormal accumulation of lipids (fats or fat-like substances) in various tissues and cells of the body due to defects in lipid metabolism. These disorders include conditions such as Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Wolman disease, among others. The accumulation of lipids can lead to progressive damage in multiple organs, resulting in a range of symptoms and health complications. Early diagnosis and management are essential for improving the quality of life and prognosis of affected individuals.

Hexosaminidase A is an enzyme that is responsible for breaking down certain complex molecules in the body, specifically gangliosides. This enzyme is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively.

Deficiency or mutation in the HEXA gene can lead to a genetic disorder called Tay-Sachs disease, which is characterized by an accumulation of gangliosides in the nerve cells, leading to progressive neurological degeneration. The function of hexosaminidase A is to break down these gangliosides into simpler molecules that can be eliminated from the body. Without sufficient levels of this enzyme, the gangliosides build up and cause damage to the nervous system.

Hexosaminidase B is a type of enzyme that is involved in the breakdown of complex lipids called gangliosides in the body. These enzymes are found in lysosomes, which are structures inside cells that break down and recycle various materials.

Hexosaminidase B specifically helps to break down a particular type of ganglioside called GM2 ganglioside, which is abundant in the nervous system. Mutations in the gene that provides instructions for making this enzyme can lead to a condition called Tay-Sachs disease, which is characterized by the accumulation of GM2 gangliosides in the nerve cells, leading to progressive neurological deterioration.

In summary, Hexosaminidase B is an essential enzyme for breaking down certain types of lipids in the body, and its deficiency can lead to serious health consequences.

Hexosaminidases are a group of enzymes that play a crucial role in the breakdown of complex carbohydrates, specifically glycoproteins and glycolipids, in the human body. These enzymes are responsible for cleaving the terminal N-acetyl-D-glucosamine (GlcNAc) residues from these molecules during the process of glycosidase digestion.

There are several types of hexosaminidases, including Hexosaminidase A and Hexosaminidase B, which are encoded by different genes and have distinct functions. Deficiencies in these enzymes can lead to serious genetic disorders, such as Tay-Sachs disease and Sandhoff disease, respectively. These conditions are characterized by the accumulation of undigested glycolipids and glycoproteins in various tissues, leading to progressive neurological deterioration and other symptoms.

Beta-N-Acetylhexosaminidases are a group of enzymes that play a role in the breakdown and recycling of complex carbohydrates in the body. Specifically, they help to break down gangliosides, which are a type of molecule found in cell membranes.

There are several different isoforms of beta-N-Acetylhexosaminidases, including A, B, and S. These isoforms are formed by different combinations of subunits, which can affect their activity and substrate specificity.

Mutations in the genes that encode for these enzymes can lead to a variety of genetic disorders, including Tay-Sachs disease and Sandhoff disease. These conditions are characterized by an accumulation of gangliosides in the brain, which can cause progressive neurological deterioration and death.

Treatment for these conditions typically involves managing symptoms and providing supportive care, as there is currently no cure. Enzyme replacement therapy has been explored as a potential treatment option, but its effectiveness varies depending on the specific disorder and the age of the patient.

Tay-Sachs Disease is a rare, inherited autosomal recessive disorder that affects the nervous system's functioning. It results from the deficiency of an enzyme called hexosaminidase A (Hex-A), which is necessary for breaking down gangliosides, a type of fatty substance found in nerve cells. When Hex-A is absent or insufficient, gangliosides accumulate abnormally in the nerve cells, leading to their progressive destruction and severe neurological deterioration.

The classic infantile form of Tay-Sachs Disease manifests within the first six months of life with symptoms such as loss of motor skills, seizures, paralysis, dementia, blindness, and eventually death, usually by age four. Late-onset forms of the disease also exist, which may present in childhood or adulthood with milder symptoms.

Tay-Sachs Disease is more prevalent among individuals of Ashkenazi Jewish, French Canadian, and Cajun descent. Genetic counseling and prenatal testing are recommended for couples at risk of passing on the disease.

Sandhoff disease is a rare inherited disorder that affects the nervous system. It's a type of GM2 gangliosidosis, which is a group of conditions characterized by the body's inability to break down certain fats (lipids) called gangliosides.

In Sandhoff disease, deficiencies in the enzymes hexosaminidase A and B lead to an accumulation of GM2 ganglioside in various cells, particularly in nerve cells of the brain. This accumulation results in progressive damage to the nervous system.

The symptoms of Sandhoff disease typically appear between 6 months and 2 years of age and can include developmental delay, seizures, an exaggerated startle response, muscle weakness, loss of motor skills, and vision and hearing loss. The condition is often fatal by around age 3. It's caused by mutations in the HEXB gene, and it's inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.

Acetylglucosaminidase (ACG) is an enzyme that catalyzes the hydrolysis of N-acetyl-beta-D-glucosaminides, which are found in glycoproteins and glycolipids. This enzyme plays a crucial role in the degradation and recycling of these complex carbohydrates within the body.

Deficiency or malfunction of Acetylglucosaminidase can lead to various genetic disorders, such as mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy), which are characterized by the accumulation of glycoproteins and glycolipids in lysosomes, resulting in cellular dysfunction and progressive damage to multiple organs.

Interleukin-1 beta (IL-1β) is a member of the interleukin-1 cytokine family and is primarily produced by activated macrophages in response to inflammatory stimuli. It is a crucial mediator of the innate immune response and plays a key role in the regulation of various biological processes, including cell proliferation, differentiation, and apoptosis. IL-1β is involved in the pathogenesis of several inflammatory diseases, such as rheumatoid arthritis, inflammatory bowel disease, and atherosclerosis. It exerts its effects by binding to the interleukin-1 receptor, which triggers a signaling cascade that leads to the activation of various transcription factors and the expression of target genes.

Chromosomes are thread-like structures located in the nucleus of cells that carry genetic information in the form of genes. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes in every cell of the body, except for the sperm and egg cells which contain only 23 chromosomes.

Human chromosomes are numbered from 1 to 22, based on their size, with chromosome 1 being the largest and chromosome 22 being the smallest. The last two pairs of human chromosomes are known as the sex chromosomes because they determine a person's biological sex. These are labeled X and Y, with females having two X chromosomes (44+XX) and males having one X and one Y chromosome (44+XY).

Therefore, "Chromosomes, Human, 4-5" refers to the fourth and fifth pairs of human chromosomes. Chromosome 4 is an acrocentric chromosome, meaning its centromere is located near one end, resulting in a short arm (p) and a long arm (q). It contains about 190 million base pairs and encodes approximately 700 genes.

Chromosome 5 is a submetacentric chromosome, with the centromere located closer to the middle, creating two arms of roughly equal length: the short arm (p) and the long arm (q). It contains about 182 million base pairs and encodes approximately 900 genes.

Both chromosomes 4 and 5 are involved in various genetic disorders when abnormalities occur, such as deletions, duplications, or translocations. Some of the well-known genetic conditions associated with these chromosomes include:

* Chromosome 4: Wolf-Hirschhorn syndrome (deletion), Charcot-Marie-Tooth disease type 1A (duplication)
* Chromosome 5: Cri du Chat syndrome (deletion), Duchenne muscular dystrophy (deletion or mutation in a gene located on chromosome 5)

Sphingolipid activator proteins (SAPs), also known as saposins, are a group of small proteins that play a crucial role in the metabolism of sphingolipids, a class of lipids found in cell membranes. These proteins are produced by the cleavage of a precursor protein called prosaposin.

SAPs facilitate the hydrolysis of sphingolipids by activating specific lysosomal hydrolases, enzymes that break down these lipids into simpler molecules. Each SAP has a unique structure and function, and they are named SapA, SapB, SapC, and SapD.

SapA and SapB activate the enzyme glucocerebrosidase, which breaks down glucosylceramide into glucose and ceramide. SapC activates the enzyme galactocerebrosidase, which breaks down galactosylceramide into galactose and ceramide. SapD has multiple functions, including activating the enzyme acid sphingomyelinase, which breaks down sphingomyelin into ceramide and phosphorylcholine.

Deficiencies in SAPs can lead to lysosomal storage disorders, such as Gaucher disease (caused by a deficiency in glucocerebrosidase) and Krabbe disease (caused by a deficiency in galactocerebrosidase). These disorders are characterized by the accumulation of undigested sphingolipids in various tissues, leading to cell dysfunction and tissue damage.

Beta-2 microglobulin (β2M) is a small protein that is a component of the major histocompatibility complex class I molecule, which plays a crucial role in the immune system. It is found on the surface of almost all nucleated cells in the body and is involved in presenting intracellular peptides to T-cells for immune surveillance.

β2M is produced at a relatively constant rate by cells throughout the body and is freely filtered by the glomeruli in the kidneys. Under normal circumstances, most of the filtrated β2M is reabsorbed and catabolized in the proximal tubules of the nephrons. However, when the glomerular filtration rate (GFR) is decreased, as in chronic kidney disease (CKD), the reabsorption capacity of the proximal tubules becomes overwhelmed, leading to increased levels of β2M in the blood and its subsequent appearance in the urine.

Elevated serum and urinary β2M levels have been associated with various clinical conditions, such as CKD, multiple myeloma, autoimmune disorders, and certain infectious diseases. Measuring β2M concentrations can provide valuable information for diagnostic, prognostic, and monitoring purposes in these contexts.

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.

Hymecromone, also known as fladrafinic acid, is an antispasmodic and anti-inflammatory medication that is primarily used to treat biliary tract spasms and cholestasis (a condition in which the flow of bile from the liver is reduced or blocked). It works by relaxing the smooth muscles in the bile ducts, thereby reducing spasms and allowing for improved bile flow. Hymecromone has also been studied for its potential use in treating other conditions such as liver disease and cancer, but more research is needed to confirm its effectiveness in these areas. It's important to note that this medication should only be used under the supervision of a healthcare professional, as it can have side effects and interactions with other medications.

Isoenzymes, also known as isoforms, are multiple forms of an enzyme that catalyze the same chemical reaction but differ in their amino acid sequence, structure, and/or kinetic properties. They are encoded by different genes or alternative splicing of the same gene. Isoenzymes can be found in various tissues and organs, and they play a crucial role in biological processes such as metabolism, detoxification, and cell signaling. Measurement of isoenzyme levels in body fluids (such as blood) can provide valuable diagnostic information for certain medical conditions, including tissue damage, inflammation, and various diseases.

GM2 gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of harmful amounts of GM2 gangliosides in the body's cells, particularly in the nerve cells of the brain. There are three main types of GM2 gangliosidoses: Tay-Sachs disease, Sandhoff disease, and AB variant of GM2 gangliosidosis. These conditions are characterized by progressive neurological degeneration, which can lead to severe physical and mental disabilities, and ultimately death in childhood or early adulthood.

The underlying cause of GM2 gangliosides is a deficiency in the enzyme hexosaminidase A (Tay-Sachs and AB variant) or both hexosaminidase A and B (Sandhoff disease), which are responsible for breaking down GM2 gangliosides. Without sufficient enzyme activity, GM2 gangliosides accumulate in the lysosomes of cells, leading to cell dysfunction and death.

Symptoms of GM2 gangliosidoses can vary depending on the specific type and severity of the disorder, but often include developmental delay, muscle weakness, loss of motor skills, seizures, blindness, and dementia. There is currently no cure for GM2 gangliosidoses, and treatment is focused on managing symptoms and improving quality of life.

Electrophoresis, starch gel is a type of electrophoretic technique used in laboratory settings for the separation and analysis of large biomolecules such as DNA, RNA, and proteins. In this method, a gel made from cooked starch is used as the supporting matrix for the molecules being separated.

The sample containing the mixture of biomolecules is loaded onto the gel and an electric field is applied, causing the negatively charged molecules to migrate towards the positive electrode. The starch gel acts as a molecular sieve, with smaller molecules moving more quickly through the gel than larger ones. This results in the separation of the mixture into individual components based on their size and charge.

Once the separation is complete, the gel can be stained to visualize the separated bands. Different staining techniques are used depending on the type of biomolecule being analyzed. For example, proteins can be stained with dyes such as Coomassie Brilliant Blue or silver nitrate, while nucleic acids can be stained with dyes such as ethidium bromide.

Starch gel electrophoresis is a relatively simple and inexpensive technique that has been widely used in molecular biology research and diagnostic applications. However, it has largely been replaced by other electrophoretic techniques, such as polyacrylamide gel electrophoresis (PAGE), which offer higher resolution and can be automated for high-throughput analysis.

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.

Adrenergic receptors are a type of G protein-coupled receptor that binds and responds to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Beta adrenergic receptors (β-adrenergic receptors) are a subtype of adrenergic receptors that include three distinct subclasses: β1, β2, and β3. These receptors are widely distributed throughout the body and play important roles in various physiological functions, including cardiovascular regulation, bronchodilation, lipolysis, and glucose metabolism.

β1-adrenergic receptors are primarily located in the heart and regulate cardiac contractility, chronotropy (heart rate), and relaxation. β2-adrenergic receptors are found in various tissues, including the lungs, vascular smooth muscle, liver, and skeletal muscle. They mediate bronchodilation, vasodilation, glycogenolysis, and lipolysis. β3-adrenergic receptors are mainly expressed in adipose tissue, where they stimulate lipolysis and thermogenesis.

Agonists of β-adrenergic receptors include catecholamines like epinephrine and norepinephrine, as well as synthetic drugs such as dobutamine (a β1-selective agonist) and albuterol (a non-selective β2-agonist). Antagonists of β-adrenergic receptors are commonly used in the treatment of various conditions, including hypertension, angina pectoris, heart failure, and asthma. Examples of β-blockers include metoprolol (a β1-selective antagonist) and carvedilol (a non-selective β-blocker with additional α1-adrenergic receptor blocking activity).

Integrin β3 is a subunit of certain integrin heterodimers, which are transmembrane receptors that mediate cell-cell and cell-extracellular matrix (ECM) adhesion. Integrin β3 combines with either integrin αv (to form the integrin αvβ3) or integrin αIIb (to form the integrin αIIbβ3). These integrins are involved in various cellular processes, including platelet aggregation, angiogenesis, and tumor metastasis.

Integrin αIIbβ3 is primarily expressed on platelets and mediates platelet aggregation by binding to fibrinogen, von Willebrand factor, and other adhesive proteins in the ECM. Integrin αvβ3 is widely expressed in various cell types and participates in diverse functions such as cell migration, proliferation, differentiation, and survival. It binds to a variety of ECM proteins, including fibronectin, vitronectin, and osteopontin, as well as to soluble ligands like vascular endothelial growth factor (VEGF) and transforming growth factor-β (TGF-β).

Dysregulation of integrin β3 has been implicated in several pathological conditions, such as thrombosis, atherosclerosis, tumor metastasis, and inflammatory diseases.

Saposins are a group of naturally occurring lipid-binding proteins that play an essential role in the metabolism of lipids within cells. They are named after a skin disease called "Niemann-Pick disease," where defects in saposin function lead to an accumulation of lipids in various tissues, including the brain.

There are four types of saposins (SapA, SapB, SapC, and SapD) that are produced by the cleavage of a larger precursor protein called prosaposin. These proteins help to facilitate the breakdown of lipids in lysosomes, which are specialized organelles within cells that break down and recycle various materials.

Saposins play an important role in activating certain enzymes that are involved in breaking down lipids, such as sphingolipids and gangliosides. They do this by binding to these enzymes and presenting them with their lipid substrates in a way that allows the enzymes to efficiently break them down.

Defects in saposin function can lead to a variety of diseases, including Niemann-Pick disease, Gaucher disease, and Krabbe disease, which are characterized by an accumulation of lipids in various tissues and neurological symptoms.

Human chromosomes 13-15 are part of a set of 23 pairs of chromosomes found in the cells of the human body. Chromosomes are thread-like structures that contain genetic material, or DNA, that is inherited from each parent. They are responsible for the development and function of all the body's organs and systems.

Chromosome 13 is a medium-sized chromosome and contains an estimated 114 million base pairs of DNA. It is associated with several genetic disorders, including cri du chat syndrome, which is caused by a deletion on the short arm of the chromosome. Chromosome 13 also contains several important genes, such as those involved in the production of enzymes and proteins that help regulate growth and development.

Chromosome 14 is a medium-sized chromosome and contains an estimated 107 million base pairs of DNA. It is known to contain many genes that are important for the normal functioning of the brain and nervous system, as well as genes involved in the production of immune system proteins. Chromosome 14 is also associated with a number of genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion on the short arm of the chromosome.

Chromosome 15 is a medium-sized chromosome and contains an estimated 102 million base pairs of DNA. It is associated with several genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by abnormalities in the expression of genes on the chromosome. Chromosome 15 also contains important genes involved in the regulation of growth and development, as well as genes that play a role in the production of neurotransmitters, the chemical messengers of the brain.

It is worth noting that while chromosomes 13-15 are important for normal human development and function, abnormalities in these chromosomes can lead to a variety of genetic disorders and developmental issues.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Macromolecular substances, also known as macromolecules, are large, complex molecules made up of repeating subunits called monomers. These substances are formed through polymerization, a process in which many small molecules combine to form a larger one. Macromolecular substances can be naturally occurring, such as proteins, DNA, and carbohydrates, or synthetic, such as plastics and synthetic fibers.

In the context of medicine, macromolecular substances are often used in the development of drugs and medical devices. For example, some drugs are designed to bind to specific macromolecules in the body, such as proteins or DNA, in order to alter their function and produce a therapeutic effect. Additionally, macromolecular substances may be used in the creation of medical implants, such as artificial joints and heart valves, due to their strength and durability.

It is important for healthcare professionals to have an understanding of macromolecular substances and how they function in the body, as this knowledge can inform the development and use of medical treatments.

Acetylglucosamine is a type of sugar that is commonly found in the body and plays a crucial role in various biological processes. It is a key component of glycoproteins and proteoglycans, which are complex molecules made up of protein and carbohydrate components.

More specifically, acetylglucosamine is an amino sugar that is formed by the addition of an acetyl group to glucosamine. It can be further modified in the body through a process called acetylation, which involves the addition of additional acetyl groups.

Acetylglucosamine is important for maintaining the structure and function of various tissues in the body, including cartilage, tendons, and ligaments. It also plays a role in the immune system and has been studied as a potential therapeutic target for various diseases, including cancer and inflammatory conditions.

In summary, acetylglucosamine is a type of sugar that is involved in many important biological processes in the body, and has potential therapeutic applications in various diseases.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.

1. Receptors: In the context of physiology and medicine, receptors are specialized proteins found on the surface of cells or inside cells that detect and respond to specific molecules, known as ligands. Receptors play a crucial role in signal transduction, enabling cells to communicate with each other and respond to changes in their environment.
2. Antigen: An antigen is any substance (usually a protein) that can be recognized by the immune system and stimulate an immune response. Antigens can be foreign substances such as bacteria, viruses, or pollen, or they can be components of our own cells, such as tumor antigens in cancer cells. Antigens are typically bound and presented to the immune system by specialized cells called antigen-presenting cells (APCs).
3. T-Cell: T-cells, also known as T lymphocytes, are a type of white blood cell that plays a central role in cell-mediated immunity. T-cells are produced in the bone marrow and mature in the thymus gland. There are two main types of T-cells: CD4+ helper T-cells and CD8+ cytotoxic T-cells. Helper T-cells assist other immune cells, such as B-cells and macrophages, in mounting an immune response, while cytotoxic T-cells directly kill infected or cancerous cells.
4. Alpha-Beta: Alpha-beta is a type of T-cell receptor (TCR) that is found on the surface of most mature T-cells. The alpha-beta TCR is composed of two polypeptide chains, an alpha chain and a beta chain, that are held together by disulfide bonds. The alpha-beta TCR recognizes and binds to specific antigens presented in the context of major histocompatibility complex (MHC) molecules on the surface of APCs. This interaction is critical for initiating an immune response against infected or cancerous cells.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Transforming Growth Factor-beta (TGF-β) is a type of cytokine, which is a cell signaling protein involved in the regulation of various cellular processes, including cell growth, differentiation, and apoptosis (programmed cell death). TGF-β plays a critical role in embryonic development, tissue homeostasis, and wound healing. It also has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

TGF-β exists in multiple isoforms (TGF-β1, TGF-β2, and TGF-β3) that are produced by many different cell types, including immune cells, epithelial cells, and fibroblasts. The protein is synthesized as a precursor molecule, which is cleaved to release the active TGF-β peptide. Once activated, TGF-β binds to its receptors on the cell surface, leading to the activation of intracellular signaling pathways that regulate gene expression and cell behavior.

In summary, Transforming Growth Factor-beta (TGF-β) is a multifunctional cytokine involved in various cellular processes, including cell growth, differentiation, apoptosis, embryonic development, tissue homeostasis, and wound healing. It has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

"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.

Isoelectric focusing (IEF) is a technique used in electrophoresis, which is a method for separating proteins or other molecules based on their electrical charges. In IEF, a mixture of ampholytes (molecules that can carry both positive and negative charges) is used to create a pH gradient within a gel matrix. When an electric field is applied, the proteins or molecules migrate through the gel until they reach the point in the gradient where their net charge is zero, known as their isoelectric point (pI). At this point, they focus into a sharp band and stop moving, resulting in a highly resolved separation of the different components based on their pI. This technique is widely used in protein research for applications such as protein identification, characterization, and purification.

Molecular weight, also known as molecular mass, is the mass of a molecule. It is expressed in units of atomic mass units (amu) or daltons (Da). Molecular weight is calculated by adding up the atomic weights of each atom in a molecule. It is a useful property in chemistry and biology, as it can be used to determine the concentration of a substance in a solution, or to calculate the amount of a substance that will react with another in a chemical reaction.

Protein conformation refers to the specific three-dimensional shape that a protein molecule assumes due to the spatial arrangement of its constituent amino acid residues and their associated chemical groups. This complex structure is determined by several factors, including covalent bonds (disulfide bridges), hydrogen bonds, van der Waals forces, and ionic bonds, which help stabilize the protein's unique conformation.

Protein conformations can be broadly classified into two categories: primary, secondary, tertiary, and quaternary structures. The primary structure represents the linear sequence of amino acids in a polypeptide chain. The secondary structure arises from local interactions between adjacent amino acid residues, leading to the formation of recurring motifs such as α-helices and β-sheets. Tertiary structure refers to the overall three-dimensional folding pattern of a single polypeptide chain, while quaternary structure describes the spatial arrangement of multiple folded polypeptide chains (subunits) that interact to form a functional protein complex.

Understanding protein conformation is crucial for elucidating protein function, as the specific three-dimensional shape of a protein directly influences its ability to interact with other molecules, such as ligands, nucleic acids, or other proteins. Any alterations in protein conformation due to genetic mutations, environmental factors, or chemical modifications can lead to loss of function, misfolding, aggregation, and disease states like neurodegenerative disorders and cancer.

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.

Electrophoresis, polyacrylamide gel (EPG) is a laboratory technique used to separate and analyze complex mixtures of proteins or nucleic acids (DNA or RNA) based on their size and electrical charge. This technique utilizes a matrix made of cross-linked polyacrylamide, a type of gel, which provides a stable and uniform environment for the separation of molecules.

In this process:

1. The polyacrylamide gel is prepared by mixing acrylamide monomers with a cross-linking agent (bis-acrylamide) and a catalyst (ammonium persulfate) in the presence of a buffer solution.
2. The gel is then poured into a mold and allowed to polymerize, forming a solid matrix with uniform pore sizes that depend on the concentration of acrylamide used. Higher concentrations result in smaller pores, providing better resolution for separating smaller molecules.
3. Once the gel has set, it is placed in an electrophoresis apparatus containing a buffer solution. Samples containing the mixture of proteins or nucleic acids are loaded into wells on the top of the gel.
4. An electric field is applied across the gel, causing the negatively charged molecules to migrate towards the positive electrode (anode) while positively charged molecules move toward the negative electrode (cathode). The rate of migration depends on the size, charge, and shape of the molecules.
5. Smaller molecules move faster through the gel matrix and will migrate farther from the origin compared to larger molecules, resulting in separation based on size. Proteins and nucleic acids can be selectively stained after electrophoresis to visualize the separated bands.

EPG is widely used in various research fields, including molecular biology, genetics, proteomics, and forensic science, for applications such as protein characterization, DNA fragment analysis, cloning, mutation detection, and quality control of nucleic acid or protein samples.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

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.

Integrin α5β1, also known as very late antigen-5 (VLA-5) or fibronectin receptor, is a heterodimeric transmembrane receptor protein composed of two subunits: α5 and β1. This integrin is widely expressed in various cell types, including endothelial cells, smooth muscle cells, and fibroblasts.

Integrin α5β1 plays a crucial role in mediating cell-matrix adhesion by binding to the arginine-glycine-aspartic acid (RGD) sequence present in the extracellular matrix protein fibronectin. The interaction between integrin α5β1 and fibronectin is essential for various biological processes, such as cell migration, proliferation, differentiation, and survival. Additionally, this integrin has been implicated in several pathological conditions, including tumor progression, angiogenesis, and fibrosis.

Integrin beta4, also known as ITGB4 or CD104, is a type of integrin subunit that forms part of the integrin receptor along with an alpha subunit. Integrins are transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion, signal transduction, and regulation of various cellular processes such as proliferation, differentiation, and migration.

Integrin beta4 is unique among the integrin subunits because it has a large cytoplasmic domain that can interact with several intracellular signaling molecules, making it an important regulator of cell behavior. Integrin beta4 is widely expressed in various tissues, including epithelial cells, endothelial cells, and hematopoietic cells.

Integrin beta4 forms heterodimers with integrin alpha6 to form the receptor for laminins, which are major components of the basement membrane. This receptor is involved in maintaining the integrity of epithelial tissues and regulating cell migration during development, tissue repair, and cancer progression. Mutations in ITGB4 have been associated with several human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering.

Integrin beta chains are a type of subunit that make up integrin receptors, which are heterodimeric transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion. These receptors play crucial roles in various biological processes such as cell signaling, migration, proliferation, and differentiation.

Integrin beta chains combine with integrin alpha chains to form functional heterodimeric receptors. In humans, there are 18 different alpha subunits and 8 different beta subunits that can combine to form at least 24 distinct integrin receptors. The beta chain contributes to the cytoplasmic domain of the integrin receptor, which is involved in intracellular signaling and cytoskeletal interactions.

The beta chains are characterized by a conserved cytoplasmic region called the beta-tail domain, which interacts with various adaptor proteins to mediate downstream signaling events. Additionally, some integrin beta chains have a large inserted (I) domain in their extracellular regions that is responsible for ligand binding specificity.

Examples of integrin beta chains include β1, β2, β3, β4, β5, β6, β7, and β8, each with distinct functions and roles in various tissues and cell types. Mutations or dysregulation of integrin beta chains have been implicated in several human diseases, including cancer, inflammation, fibrosis, and developmental disorders.

GM1 gangliosidosis is a rare inherited lysosomal storage disorder caused by the deficiency of an enzyme called β-galactosidase. This enzyme is responsible for breaking down certain complex fats (gangliosides) in the body. When this enzyme is lacking or not working properly, these gangliosides accumulate in various cells, particularly in nerve cells of the brain, leading to progressive neurological deterioration.

The condition can present at different ages and with varying severity, depending on the amount of functional β-galactosidase enzyme activity. The three main types of GM1 gangliosidosis are:

1. Early infantile (type I): This is the most severe form, with symptoms appearing within the first few months of life. Infants may appear normal at birth but then develop rapidly progressing neurological problems such as developmental delay, muscle weakness, seizures, and cherry-red spots in the eyes. Life expectancy is typically less than 2 years.

2. Late infantile/juvenile (type II): Symptoms begin between ages 1 and 3 years or later in childhood. Affected individuals may have developmental delay, motor difficulties, muscle weakness, and cognitive decline. Some individuals with this form may also develop corneal clouding and bone abnormalities.

3. Adult/chronic (type III): This is the least severe form of GM1 gangliosidosis, with symptoms appearing in late childhood, adolescence, or adulthood. Symptoms can include neurological problems such as muscle weakness, tremors, and difficulties with coordination and speech.

Currently, there is no cure for GM1 gangliosidosis, and treatment is primarily supportive to manage symptoms and improve quality of life.

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN (April 2003). "Crystal structure of human beta-hexosaminidase B: ...
... one beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a ... The two beta chains are derived from the cleavage of a precursor. Mutations in the beta-chain lead to Sandhoff disease, a ... substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme". ... There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer, with one alpha, ...
Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous ... major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". ... Total hexosaminidase enzyme activity is decreased in individuals with Tay-Sachs as is the percentage of hexosaminidase A. After ... Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks down sphingolipids. When hexosaminidase A is ...
Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ... These disorders include sickle cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for ... 1988). "Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United ... when polymerase chain reaction techniques for amplification of DNA made it cost-effective to sequence genes and identify ...
The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This ... beta" gene found on chromosome 11p15.5. A single point mutation in this polypeptide chain, which is 147 amino acids long, ... Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As ... There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. Beta-hemoglobin is created from the ...
"Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain ... Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase B is the beta subunit ... Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase ... Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12". The Journal of ...
FcεR1 is a tetramer made of one alpha (α) chain, one beta (β) chain, and two identical, disulfide-linked gamma (γ) chains. The ... β-Hexosaminidase, cytokines, chemokines, PGD2, leukotrienes, and eoxins). FcεR1 is a high affinity IgE-receptor that is ... The assembly of the α chain with the co-transfected β and γ chains mask the ER retention and allows the α β γ complex to be ... Type 2 helper T cells,(Th2) and many other cell types lack the β chain, so signaling is mediated only by the γ chain. This is ...
1993). "A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency ... modern testing in human subjects generally employs polymerase chain reaction because small tissue samples can be obtained by ... Kaback, Michael M. "Hexosaminidase A Deficiency". GeneReviews. Retrieved 2007-05-11. Machácková, Eva (2003). "Disease-causing ... Enzyme assay techniques detect individuals with lower levels of hexosaminidase A. Development of a serum enzyme assay test made ...
From these two subunits, isoenzymes such as Hex A (one alpha and one beta subunit), Hex B (two beta subunits) and Hex S (two ... Notably, deficiency of hexosaminidases results in clinically significant Tay-Sachs and Sandhoff diseases, which also implicates ... "Primary structures of the N-linked carbohydrate chains from honeybee venom phospholipase A2". European Journal of Biochemistry ... Hexosaminidases (Hex) are important glycoside hydrolases for the generation of plant-specific paucimannosidic proteins across ...
X-linked Hexosaminidases A and B deficiency HHH syndrome Hibernian fever, familial Hiccups Hidradenitis suppurativa familial ... syndrome Holzgreve-Wagner-Rehder syndrome Homocarnosinase deficiency Homocarnosinosis Homocystinuria due to cystathionine beta- ... ceroid lipofuscinosis Hereditary coproporphyria Hereditary deafness Hereditary elliptocytosis Hereditary fibrinogen Aα-Chain ...
... a biofilm-releasing beta-hexosaminidase from a periodontal pathogen, in substrate hydrolysis". FEBS J. 274 (22): 5987-99. doi: ... Chain lengthening of the substrate was shown to increase the catalytic efficiency of Dispersin B. A substrate with a degree of ... "The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease". J Mol Biol. 328 (3): ... "Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B". Biochemistry. 40 (7): 2201- ...
4-beta-glucosidase MeSH D08.811.277.450.420.200.600 - glucan endo-1,3-beta-d-glucosidase MeSH D08.811.277.450.420.375 - glucan ... cholesterol side-chain cleavage enzyme MeSH D08.811.600.250 - electron transport chain complex proteins MeSH D08.811.600.250. ... hexosaminidases MeSH D08.811.277.450.483.021 - acetylglucosaminidase MeSH D08.811.277.450.483.044 - alpha-N- ... 4-beta-cellobiosidase MeSH D08.811.277.450.420.200.450 - endo-1,3(4)-beta-glucanase MeSH D08.811.277.450.420.200.500 - glucan 1 ...
... beta-D-galactopyranose bDGalpNAc = N-acetyl-beta-D-galactopyranose bDGlcp = beta-D-glucopyranose Cer = ceramide (general N- ... For example, the fatal Tay-Sachs disease arises as a genetic defect which leads to no functional hexosaminidase A produced, ... Gangliosides are present and concentrated on cell surfaces, with the two hydrocarbon chains of the ceramide moiety embedded in ... N-Acetyl-D-galactose-beta-1,4-[N-Acetylneuraminidate- alpha-2,3-]-Galactose-beta-1,4-glucose-alpha-ceramide GM2b(?) = aNeu5Ac(2 ...
As a result, the substrate does not simply bind to a rigid active site; the amino acid side-chains that make up the active site ... For example, bacteria may become resistant to antibiotics such as penicillin because enzymes called beta-lactamases are induced ... in which patients lack the enzyme hexosaminidase. One example of enzyme deficiency is the most common type of phenylketonuria. ... Faergeman NJ, Knudsen J (April 1997). "Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell ...
"Detachment of Actinobacillus actinomycetemcomitans biofilm cells by an endogenous beta-hexosaminidase activity". Journal of ... Biofilms are important components of food chains in rivers and streams and are grazed by the aquatic invertebrates upon which ...
"Glucose Stimulates Protein Modification by O-linked GlcNAc in Pancreatic Beta Cells: Linkage of O-linked GlcNAc to Beta Cell ... As alanine's side chain is a methyl group and is thus not able to act as an O-GlcNAc site, this mutation effectively ... As PUGNAc also inhibits lysosomal β-hexosaminidases, the OGA-selective inhibitor NButGT was developed to further probe the ... The modification is characterized by a β-glycosidic bond between the hydroxyl group of serine or threonine side chains and N- ...
Lemansky P, Gieselmann V, Hasilik A, von Figura K (August 1984). "Cathepsin D and beta-hexosaminidase synthesized in the ... 196 amino acid residues in the heavy chain and 141 in the light chain. These two chains are linked by the hydrophobic effect. ... This gene encodes a lysosomal aspartyl protease composed of a protein dimer of disulfide-linked heavy and light chains, both ... located on the 14 kDa and 34kDa chains. The ultimate form of mature cathepsin D is composed of 337 amino acid residues, ...
Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN (April 2003). "Crystal structure of human beta-hexosaminidase B: ...
β-Hexosaminidase B (Hex B) is a dimer of beta chains. It hydrolyzes GM2 and its neutral asialo derivative GA2. Both subunit ... Hexosaminidase S (Hex S) is a dimer of alpha chains; it is a normal constituent of plasma and degrades a wide range of ... The products of the 3 genes are, respectively, the alpha subunits of b-hexosaminidase A (Hex A; EC 3.2.1.52), the beta subunits ... Hex A is a dimer and has the structure alpha-beta. The alpha subunit is encoded by the HEXA gene at band 15q23-q24; the beta ...
It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated ... It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. ... of fibroblast cultures from two patients with Sandhoff disease did not direct the translation of immunoprecipitable beta chain ... Hexosaminidase A; Deficiency, Hexosaminidase alpha-Subunit (Variant B); Hexosaminidase A Deficiencies; Hexosaminidase alpha ...
A Chain A, Crystal Structure Of Insect Beta-N-Acetyl-D-Hexosaminidase Ofhex1 V327g Complexed With Pugnac. ... and beta-subunits of the two major beta-N-acetylhexosaminidase isoenzymes, N-acetyl-beta-D-hexosaminidase A (HexA) and beta-N- ... A Chain A, Crystal Structure Of Human Pofut2. PDB. 3nsm_A. 0. 32. 580. 43. 570. A Chain A, Crystal Structure Of Insect Beta-N- ... beta-hexosaminidase [Zea mays]. RefSeq. XP_002463072.1. 0. 1. 584. 1. 584. hypothetical protein SORBIDRAFT_02g037280 [Sorghum ...
L451 is found at the surface of the protein, opposite of the beta-subunit binding site and catalytic site. The side chain ... Crystallographic Structure of Human beta-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside ... The C-beta atoms are placed almost identically at the position of the wildtype glutamates C-beta atom. The C-gamma atom ... The struture of this Uniprot entry is found in the alpha-chains of the PDB-IDs and 2gjx and 2gk1 both form the same publication ...
Identification of novel potential beta-N-acetyl-D-hexosaminidase inhibitors by virtual screening, molecular dynamics simulation ... E.(2010). Improved side-chain torsion potentials for the Amber ff99SB protein force field. Proteins 78: 1950-1958.. Liu, J., ... Bello, M., Gutierrez, G. & Garcia-Hernandez, E. (2012). Structure and dynamics of beta- lactoglobulin in complex with dodecyl ... Nusinzon, I. & Horvath, C. M. (2006). Positive and negative regulation of the innate antiviral response and beta interferon ...
... beta-Globins Beta-Globulins beta-Glucans beta-Glucosidase beta-Hexosaminidase alpha Chain beta-Hexosaminidase beta Chain beta ... beta B Chain beta B Crystallin beta B-Crystallin beta Crystallin B Chain beta- ... B Chain, beta-Crystallin. B-Crystallin, beta ... beta-Crystallin A Chain beta-Crystallin B Chain beta-Crystallins beta-Cyclodextrins beta-Defensins beta-Endorphin beta- ... ... Beta-Cryptoxanthin beta-Crystallin A Chain beta-Crystallin B Chain beta-Crystallins beta-Cyclodextrins beta-Defensins beta ...
... of an enzyme called beta-hexosaminidase A. Learn about this gene and related health conditions. ... to form a functioning beta-hexosaminidase A enzyme.. Beta-hexosaminidase A plays a critical role in the brain and spinal cord ( ... Dersh D, Iwamoto Y, Argon Y. Tay-Sachs disease mutations in HEXA target the alpha chain of hexosaminidase A to endoplasmic ... Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside found ...
Cadena alfa de beta-Hexosaminidasa. Cadeia beta da beta-Hexosaminidase. beta-Hexosaminidase beta Chain. Cadena beta de beta- ... Cadeia alfa da beta-Hexosaminidase. beta-Hexosaminidase alpha Chain. ... Hexosaminidase B. Hexosaminidase B. Hexosaminidasa B. Nicotinamida Fosforribosiltransferase. Nicotinamide ... Immunoglobulin Light Chains, Surrogate. Inmunoglobulina de Cadenas Ligeras Subrogadas. Canais KATP. KATP Channels. Canales KATP ...
... and beta-subunits of the two major beta-N-acetylhexosaminidase isoenzymes, N-acetyl-beta-D-hexosaminidase A (HexA) and beta-N- ... A Chain A, Crystal Structure Of Deg5. PDB. 2gjx_F. 0. 34. 521. 7. 500. A Chain A, Crystal Structure Of Deg5. ... HEXO3 (BETA-HEXOSAMINIDASE 3); beta-N-acetylhexosaminidase/ hexosaminidase [Arabidopsis thaliana]. RefSeq. XP_002311272.1. 0. ... GH20_hexosaminidase. 2.0e-64. 184. 484. 322. + Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the ...
Beta-hexosaminidase subunit beta. HEXB. 63. 2. 0. 1. 20. 1. 8. 0.71. 0.02101. ... Ferritin light chain. FRIL. 20. 16. 4. 5. 86. 16. 2. 0.73. 0.01914. ... Beta-hexosaminidase subunit beta. HEXB. 63. 2. 0. 1. 20. 1. 8. 0.71. 0.02101. ... implicated in the pathogenesis of many cancers and is believed to exert its influence via signaling pathways including beta ...
Both heparanase and beta- hexosaminidase, a mast cell granule enzyme, were released on degranulation of BMMC induced by the ... into fragments 5 to 6 times smaller than intact HS side chains. A much lower activity (seven- to eightfold) was expressed by ...
Hexosaminidase, Beta. Thus, the selection of a biological recognition element able to interact with the most common serotypes ... This review describes the most recent (over the last five years) electrochemical Rabbit Polyclonal to KNG1 (H chain, Cleaved- ... such as polymerase chain reaction (PCR) and biological recognition element-based methods) to distinguish between living and ...
HN - 2008 MH - beta-Hexosaminidase beta Chain UI - D054821 MN - D08.811.277.450.483.180.750.750 MN - D08.811.277.450.483.180. ... A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due ... Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a ... beta-Hexosaminidase alpha Chain UI - D054820 MN - D08.811.277.450.483.180.750.500 MS - The alpha subunit of hexosaminidase A. ...
HN - 2008 MH - beta-Hexosaminidase beta Chain UI - D054821 MN - D08.811.277.450.483.180.750.750 MN - D08.811.277.450.483.180. ... A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due ... Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a ... beta-Hexosaminidase alpha Chain UI - D054820 MN - D08.811.277.450.483.180.750.500 MS - The alpha subunit of hexosaminidase A. ...
HN - 2008 MH - beta-Hexosaminidase beta Chain UI - D054821 MN - D08.811.277.450.483.180.750.750 MN - D08.811.277.450.483.180. ... A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due ... Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a ... beta-Hexosaminidase alpha Chain UI - D054820 MN - D08.811.277.450.483.180.750.500 MS - The alpha subunit of hexosaminidase A. ...
HN - 2008 MH - beta-Hexosaminidase beta Chain UI - D054821 MN - D08.811.277.450.483.180.750.750 MN - D08.811.277.450.483.180. ... A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due ... Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a ... beta-Hexosaminidase alpha Chain UI - D054820 MN - D08.811.277.450.483.180.750.500 MS - The alpha subunit of hexosaminidase A. ...
... beta-galactosidase (K01190), and hexosaminidase (K12373) after morel intervention. The exploration of the impact of morel ... Morel (Morchella spp.) intake alters gut microbial community and short-chain fatty acid profiles in mice. ... The functional categories involved with SCFAs-production or weight loss may contain enzymes such as beta-glucosidase (K05349), ... while the gene expression of p-p38 was elevated by reverse transcription polymerase chain reaction, immunostaining, and western ...
10N). However, GBA, beta-hexosaminidase A (HEX-A), sphingomyelin synthase 1 (SGMS-1), and sphingomyelin phosphodiesterase 1 ( ... Decreases of long-chain CLs coincided with increases of short-chain CLs (Fig. 4D-G). Similar patterns of change were found in ... and increased short-chain lipids containing short fatty acyl chains, suggesting excessive fatty acid peroxisomal β-oxidation. ... D, E Ion images (16 m) of cardiolipin (CL) peaks, sorted by numbers of double bonds (D) or chain length (E). F, G Graphs ...
glucuronidase beta [Source:HGNC Sym.... HCG26. HEXA. 3073. HEXA. hexosaminidase subunit alpha [Sourc.... ... joining chain of multimeric IgA and.... IL10RA. 3587. IL10RA. interleukin 10 receptor subunit alp.... ...
iPLA(2)beta indicated adult or next in exclusive chain before DNA browser( all comments). epub Enterprise Supply Chain ... together, the epub of human ARKmini on governmental human diamond of detailed track hexosaminidase were evaluated. In planet ... epub Enterprise Supply Chain Mike Burke had his part into every law beta-CG and anti-virus on sequence - and revealed ... beta-citryl-L-glutamate: Tyndall science in a ritual living the 19th layer. 3 Causes Other epub Enterprise Supply Chain vision ...
Chitobiase/beta-hexosaminidase domain 2-like. 2wzhA01. 1X6LA 3NDZA 2J7GA 4Z2LA 1DHKA 1JZ2A 1GVYA 2W63A 1UD5A 2VQTA 3SCQA 4PMYA ... chains in the Genus database with same CATH superfamily 4KF1A 1FX6A 1TIWA 2PTXA 1X6LA 1G73A 1DHKA 2V6YA 1JZ2A 2J9YA 4LF8T 2W63A ... Alpha Beta. Alpha-Beta Barrel. TIM Barrel. Glycosidases. 2wzhA02. 3.30.379.10. Alpha Beta. 2-Layer Sandwich. Chitobiase; domain ... chain. Pfam Accession Code. Pfam Family Identifier. Pfam Description. A. PF02838 Glyco_hydro_20b. Glycosyl hydrolase family 20 ...
Chitobiase/beta-hexosaminidase domain 2-like. 2w4xA01. 3D3AA 5FL0A 2V5DA 2W4XA 4H04A 3AOFA 4WLCA 2VZOA 1HJXA 3WD0A 3K4AA 1LLOA ... chains in the Genus database with same CATH superfamily 4S38A 3TZNA 2O0TA 4LU0A 5FL0A 3QB5A 3AOFA 3B0YA 3W87A 4Q6JA 1W0MA 3LI1A ... Alpha Beta. Alpha-Beta Barrel. TIM Barrel. Glycosidases. 2w4xA02. 3.30.379.10. Alpha Beta. 2-Layer Sandwich. Chitobiase; domain ... chain. Pfam Accession Code. Pfam Family Identifier. Pfam Description. A. PF02838 Glyco_hydro_20b. Glycosyl hydrolase family 20 ...
Beta-glucocerebrosidase. *Tay-Sachs disease. Beta-hexosaminidase. *Beta-mannosidosis. Beta-mannosidase. *Sandhoff disease. ... quantitative polymerase chain reaction, qPCR; or chromosomal microarray, CMA) ...
hexosaminidase B (beta polypeptide). Felis catus. domestic cat. protein-coding. HMBS. hydroxymethylbilane synthase. Felis catus ... myosin, heavy chain 7, cardiac muscle, beta. Felis catus. domestic cat. protein-coding. ... galactosidase, beta 1. Felis catus. domestic cat. protein-coding. GM2A. GM2 ganglioside activator. Felis catus. domestic cat. ... glucuronidase, beta. Felis catus. domestic cat. protein-coding. HES7. hes family bHLH transcription factor 7. Felis catus. ...
medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD). * disorders of porphyrin metabolism*acute intermittent porphyria ... juvenile hexosaminidase A deficiency. *Krabbe disease. *lysosomal acid lipase deficiency. *metachromatic leukodystrophy ...
PAR-1AP (ApfFRChaCitY-NH(2), 10 microM) (Cit) induced 11.7 +/- 3.7% specific beta-hexosaminidase release, whereas another PAR- ... mediated beta-hexosaminidase release. Thus, tc-LIGRLO-NH(2) and Cit have at least partially similar mechanisms of action as 48/ ... beta-hexosaminidase release by 62%. Moreover, removal of sialic acid from peritoneal mast cells, using neuraminidase (2 U/ml), ... specific beta-hexosaminidase release from peritoneal mast cells, whereas another PAR-2AP (SLIGRL-NH(2), 10 microM), trypsin (40 ...
7. Beta Amyloid 1-40 8. Beta Amyloid 1-42 9. Beta-2-Microglobulin 10. Beta-hexosaminidase subunit alpha ... supply chain, biorepository and specimen management, and clinical trial sample and consent tracking solutions. Learn more at ...
Hepatomegaly, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Coxa valga, Cardiomegaly.... OMIM:252500. ... Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub.... OMIM:614886. ... Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia. OMIM:300448. ... Hypospadias, Renal agenesis, Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Hypo.... OMIM:301040. ...
  • There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.org)
  • Hexosaminidase activator deficiency is caused by absence or defects of the hexosaminidase activator. (medscape.com)
  • Type AB G M2 gangliosidosis is also known as hexosaminidase activator deficiency. (medscape.com)
  • inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. (msdmanuals.com)
  • Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. (msdmanuals.com)
  • There is a combined hexosaminidase A and B deficiency. (msdmanuals.com)
  • Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. (wikipedia.org)
  • EC 3.2.1.52), the beta subunits of Hex A (EC 3.2.1.52), and the G M2 activator protein. (medscape.com)
  • The hexA and hexB genes encode the alpha- and beta-subunits of the two major beta-N-acetylhexosaminidase isoenzymes, N-acetyl-beta-D-hexosaminidase A (HexA) and beta-N-acetylhexosaminidase B (HexB). (unl.edu)
  • Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)
  • The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
  • Both the alpha and the beta catalytic subunits have a TIM-barrel fold and belong to the glycosyl hydrolase family 20 (GH20). (unl.edu)
  • The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. (wikipedia.org)
  • the beta subunit is encoded by the HEXB gene at band 5q13. (medscape.com)
  • One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. (medlineplus.gov)
  • Crystallographic Structure of Human beta-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside Hydrolysis. (tu-muenchen.de)
  • Dersh D, Iwamoto Y, Argon Y. Tay-Sachs disease mutations in HEXA target the alpha chain of hexosaminidase A to endoplasmic reticulum-associated degradation. (medlineplus.gov)
  • Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. (wikipedia.org)
  • The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
  • The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by the solvent or the enzyme, but by the substrate itself. (unl.edu)
  • The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. (medlineplus.gov)
  • The HEXA gene variants that cause Tay-Sachs disease eliminate or severely reduce the activity of the enzyme beta-hexosaminidase A. This lack of enzyme activity prevents the enzyme from breaking down GM2 ganglioside. (medlineplus.gov)
  • Both heparanase and beta- hexosaminidase, a mast cell granule enzyme, were released on degranulation of BMMC induced by the calcium ionophore A23187, or by exposure to IgE-Ag, suggesting that heparanase is localized in the cell granules. (ashpublications.org)
  • Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside found in cell membranes. (medlineplus.gov)
  • Most of the known HEXA gene variants result in a completely nonfunctional version of beta-hexosaminidase A. These variants cause a severe form of Tay-Sachs disease, known as infantile Tay-Sachs disease, which appears in infancy. (medlineplus.gov)
  • A site on the alpha subunit acts against negatively charged sulfated substrates, while a site on the beta subunit acts against neutral water-soluble substrates. (medscape.com)
  • Ig genes including large chains A, G, and M and light chains and were induced at 3C4 wk in every animals highly. (newyorkcityhightech.com)
  • Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. (lookformedical.com)
  • A functionally uncharacterized subgroup of the Glycosyl hydrolase family 20 (GH20) catalytic domain found in proteins similar to the chitobiase of Serratia marcescens, a beta-N-1,4-acetylhexosaminidase that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)
  • The chitobiase of Serratia marcescens is a beta-N-1,4-acetylhexosaminidase with a glycosyl hydrolase family 20 (GH20) domain that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)
  • Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
  • The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP) in the alpha subunit. (wikipedia.org)
  • The order of amino acids as they occur in a polypeptide chain. (lookformedical.com)
  • Mammalian P-gp homologs arise from the folding of a single polypeptide chain that is transcribed and translated in the order: (N-term) TMD1-NBD1-TMD2-NBD2 (C-term). (unscburma.org)
  • 1S C 8S C novel GCPII dipeptidic substrates featuring nonpolar aliphatic side chain at the P1 position. (institutopsicofarmacologia.com)
  • values in the series follow the general trend observed for the parent substrates, with the inhibitor potency increasing with the elongation of the P1 side chain. (institutopsicofarmacologia.com)
  • The absence turn SYK is the reactive activation such acids( ITAMs) on the extrahepatic substrates of Ig-alpha( CD79A, MB-1) and Ig-beta( CD79B, B29)( Wienands et al. (erik-mill.de)
  • One study, done on mice, successfully reestablished beta-hexoaminidase levels and removed the toxic cell buildup by using a non-replicated Herpes simplex vector to code for the missing gene. (wikipedia.org)
  • During the process of mannitol suppressing NSC proliferation, the expression of AQP4 mRNA and protein was downregulated, while the gene expression of p-p38 was elevated by reverse transcription polymerase chain reaction, immunostaining, and western blotting assays. (bvsalud.org)
  • Incubation of metabolically [35S]O4 = -labeled subendothelial extracellular matrix (ECM) with lysates of bone marrow-derived mouse mast cells (BMMC) resulted in extensive degradation of heparan sulfate (HS) into fragments 5 to 6 times smaller than intact HS side chains. (ashpublications.org)
  • We demonstrated that rat peritoneal mast cells expressed PAR-1 and PAR-2 mRNA, and that PAR-2AP (tc-LIGRLO-NH(2), 1 microm) induced 64.2 +/- 4.4% specific beta-hexosaminidase release from peritoneal mast cells, whereas another PAR-2AP (SLIGRL-NH(2), 10 microM), trypsin (40 U/ml), and mast cell tryptase (1.5 microg/ml) did not. (lvhn.org)
  • Moreover, removal of sialic acid from peritoneal mast cells, using neuraminidase (2 U/ml), inhibited Cit- (10 microM, 52%) and tc-LIGRLO-NH(2) (0.5 microM, 29%)-mediated beta-hexosaminidase release. (lvhn.org)
  • the substrate with the shortest amino acid side chain, and gradual extension of the hydrocarbon side-chain of the C-terminal amino acid resulted in the monotonic improvement of the overall catalytic efficiency. (institutopsicofarmacologia.com)
  • In this regard, we want to specify that the pre-enrichment phase is essential to allow the growth of viable cells, overcoming the inability of the emerging methodologies (such as polymerase chain reaction (PCR) and biological recognition element-based methods) to distinguish between living and dead cells. (chiflatironsofficial.com)
  • In order to elucidate the role of Aquaporin 4 (AQP4) in the suppressive effect of mannitol on NSC proliferation, various assays including reverse transcription polymerase chain reaction, western blotting, and immunocytochemistry were conducted on control and mannitol-treated groups. (bvsalud.org)
  • Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. (unl.edu)
  • In the case of methionine, more than 40% of the overall interaction energy (-11.1 kcal.mol-1) with the neighboring residues comes from the interaction with Asn257 side chain (-4.8 kcal.mol-1). (institutopsicofarmacologia.com)
  • Other nonpolar residues contribute by -1.5 kcal.mol-1 per residue with the exception of the nonpolar part of the Lys699 side chain (modeled as CH3(CH2)2CH3) that contributes negligibly. (institutopsicofarmacologia.com)
  • Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. (wikipedia.org)
  • The ITGB3 protein product is the integrin beta chain beta 3. (revoluciondelosgladiolos.org)
  • Proteoglycans are characterized by a core protein that is covalently linked to glycosaminoglycan (GAG) side chains and are components of the extracellular matrix of insect [15,16] and mammalian tissues [17]. (greatlakeshighereducationnow.com)
  • Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. (wikipedia.org)
  • Other variants severely reduce but do not eliminate the activity of beta-hexosaminidase A. These genetic changes are responsible for less severe forms of Tay-Sachs disease, known as the juvenile and late-onset forms, which appear later in life. (medlineplus.gov)
  • Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. (wikipedia.org)
  • together, the epub of' human ARKmini' on governmental human diamond of detailed track hexosaminidase were evaluated. (oldandelegant.com)
  • PAR-1AP (ApfFRChaCitY-NH(2), 10 microM) (Cit) induced 11.7 +/- 3.7% specific beta-hexosaminidase release, whereas another PAR-1AP (TFLLR-NH(2), 40 microM) and human thrombin (10 U/ml) did not. (lvhn.org)
  • It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. (curehunter.com)
  • Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants. (lookformedical.com)
  • TIGIT can inhibit CD8+ T cell proliferation and activation by directly acting on TCR expression itself as engagement of TIGIT induces a down-regulation of the TCR- chain and molecules that comprise the TCR complex (18). (greatlakeshighereducationnow.com)
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  • It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. (curehunter.com)
  • The routine method to detect in food is the standard cultural method (EN/ISO 6579) which entails a non-selective pre-enrichment step followed by a selective enrichment (to enhance the number of cells versus the competitor microorganisms), isolation on selective agar medium, bacterial identification by biochemical and serological tests, to confirm the suspect colonies grown on the selective agar. (chiflatironsofficial.com)
  • Signaling by TGF-beta neoplasia neurogenesis can highly inhibit recruited by localization cells in SMAD2 and SMAD3( Fleming et al. (erik-mill.de)
  • Mature B cells do IgM and IgD events which play purchased at the adhesion injury with Ig-alpha( CD79A, MB-1) and Ig-beta( CD79B, B29) to refer the B substrate migration( BCR)( Fu et al. (erik-mill.de)
  • inhibiting of download to the translesion is cell of cartilage dependent PLP members( ITAMs) in the Standard cells of Ig-alpha and Ig-beta by Src phophorylate energy pathways, missing LYN, FYN, and BLK( Nel et al. (erik-mill.de)
  • Beta-hexosaminidase A plays a critical role in the brain and spinal cord (central nervous system). (medlineplus.gov)
  • This trend is documented by the fact that compared to Ac-Asp-Ala, the rhGCPII hydrolysis of 8S (Ac-Asp-Ano), the dipeptide with the longest (heptyl) C-terminal side-chain, is approximately 20-fold more efficient (Table 1). (institutopsicofarmacologia.com)
  • TGF-beta causing lectures physically reviewed in conversion, so through SMAD4 mTORC1 breakdown or synthesis alveoli, which are constitutively other in normal neuraminidase( Hahn et al. (erik-mill.de)
  • In rheumatoid gut, passaging by TGF-beta may be blood linking, as it results viral process( EMT), extracellularly according development( Cui et al. (erik-mill.de)
  • Since these are only the manually chosen side chain conformations, selected from the ones given by PyMOL, most of the analysis can be found in the sections below based on the predictions by SCWRL and FoldX. (tu-muenchen.de)
  • Integrin beta 3 is found along with the alpha IIb chain inplatelets. (revoluciondelosgladiolos.org)
  • More importantly, though, the C-terminal methionine in the GCPII/9I complex (together with surrounding GCPII side chains) spatially overlaps with the corresponding part of NAAM, its parent substrate (Figure 3). (institutopsicofarmacologia.com)
  • Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
  • Hex A is a dimer and has the structure alpha-beta. (medscape.com)
  • Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (lookformedical.com)
  • TGF- elicits its mobile effects via relationship with three cell surface area receptors, the sort I, II and III changing development factor-beta ST3932 receptors (TRs). (accessibletech4all.org)
  • The GH20 enzymes include the eukaryotic beta-N-acetylhexosaminidases A and B, the bacterial chitobiases, dispersin B, and lacto-N-biosidase. (unl.edu)