Gene mutant proteins. Medical search. Frequent questions

A mutant protein is the protein product encoded by a gene with mutation. (wikipedia.org)
Chiesa R , Drisaldi B , Quaglio E , Migheli A , Piccardo P , Ghetti B , Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation. (cdc.gov)
Moreover, they observed that the filaments have distinct structures depending on the protein mutation from which they originate. (sciencedaily.com)
Hutchinson-Gilford progeria syndrome is a rare condition caused when a mutation, which probably took place in the testes or ovaries of a child's parents, results in a single DNA letter change in one of the two copies of the gene for the lamin A protein. (newscientist.com)
A virus carrying the genes for the base editor was injected into the blood of 2-week-old mice - roughly equivalent to 5-year-old children, says Liu - with the progeria mutation. (newscientist.com)
The TP53 gene mutation is the most common gene alteration in many tumors, including esophageal cancer. (spandidos-publications.com)
Although the biological significance of TP53 gene mutation is well characterized, its clinical significance in esophageal cancer remains controversial, especially as a prognostic biomarker. (spandidos-publications.com)
Therefore, the overexpression of p53 does not always indicate a mutation in the TP53 gene. (spandidos-publications.com)
Similarly, TP53 mutation does not always lead to the accumulation of p53 protein in cells. (spandidos-publications.com)
In 2015, Rothstein's team found out how a mutation in a gene - implicated in 40 percent of inherited ALS cases and 25 percent of inherited frontotemporal dementia cases - gums up transport in and out of the nucleus in neurons, ultimately shutting the cell down and leading to its death. (hopkinsmedicine.org)
Huntington's disease is caused by a mutation in the Huntingtin protein, resulting in too many repeats of the amino acid glutamine in the protein's sequence, making the protein sticky and clumpy. (hopkinsmedicine.org)
Here, we differentiated MODY5 human-induced pluripotent stem cells (hiPSCs) into pancreatic progenitors, and show that the HNF1BS148L/+ mutation causes a compensatory increase in several pancreatic transcription factors, and surprisingly, a decrease in PAX6 pancreatic gene expression. (harvard.edu)
The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
Shibire is the name given to an unusual mutation in the fruit fly Drosophila's dynamin gene, which normally makes a protein that helps to release tiny little packets of molecules from nerve cells enabling them to transmit information. (thenakedscientists.com)
The genetic alteration causative of SCAN-1 is a mutation altering the function of a gene called tdp1 (tyrosyl- DNA phosphodiesterase 1). (ataxia.org)
The pathology is caused by a mutation in the huntingtin gene which results in the production of an abnormal protein, mutant huntingtin (mHtt). (bmj.com)
The B-Raf gene has two hotspots for mutation. (news-medical.net)
Previous research has found that a mutation in a protein called menin causes a hereditary cancer syndrome called MEN1 (multiple endocrine neoplasia type 1). (medindia.net)
The disease stems from a genetic mutation in the Huntingtin gene that produces too many copies of a DNA segment known as CAG, which gives rise to a longer Huntingtin protein with toxic effects. (ufl.edu)
However, researchers found that this DNA repeat mutation can undergo a process known as repeat associated non-ATG (RAN) translation, producing four additional damaging repeat proteins that accumulate in the brain. (ufl.edu)
There is a rare hereditary form of beta-2-microglobulin amyloidosis due to a mutation to the relevant gene. (msdmanuals.com)

Mutations at the L32, K69, and R82 amino acid sites generally destabilize the protein and many of these affect the function of the phage. (tmu.edu.tw)
We have interpreted the protein stability and the functional properties associated with those mutations in terms of the observed structural perturbations. (tmu.edu.tw)
Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. (nature.com)
no MLLT1 -mutant tumours had accompanying WT1 , WTX , DROSHA , DGCR8 , SIX1 , or SIX2 mutations ( Supplementary Table 1 ). (nature.com)
One of the mutations that has aroused considerable interest in recent years concerns the BRAF (v-raf murine sarcoma viral oncogene homolog B) gene that encodes the protein belonging to a highly oncogenic RAS/RAF/MEK/ERK signaling pathway [ 9 ]. (hindawi.com)
We will find many more genes with such disease-causing mutations and can now test their mode of action. (mpg.de)
However, at that point, we had no clue how the gene product functionally caused disease, especially given that loss-of-function mutations were reported to result in other phenotypes. (mpg.de)
Disease-causing mutations involve a lengthening of part of the gene for huntingtin, so that it repeats three letters (CAG) of the genetic code dozens of times. (scienceblog.com)
Many variants (also known as mutations) in the VCP gene have been identified in people who have inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). (medlineplus.gov)
Mutations in the SLC25A20 gene (3p21.31) are responsible for CACT deficiency. (orpha.net)
Specific enzyme analysis in cultured fibroblasts or lymphocytes will confirm a diagnosis as will the demonstration of two pathogenic mutations in the SLC25A20 gene. (orpha.net)
Additionally, he realized that other researchers previously showed that mutations in the nuclear pore protein NUP62 caused Huntington's disease-like pathology. (hopkinsmedicine.org)
This finding was quite tantalizing given the fact that mutations in the NUP62 protein were shown by other researchers to cause an infantile form of Huntington's disease called infantile bilateral striatal necrosis," says Grima. (hopkinsmedicine.org)
Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. (molvis.org)
Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the disease mechanism. (molvis.org)
The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function. (molvis.org)
Studies conducted on PRPF31 mRNA levels in lymphoblast cell lines isolated from family members with either deletion or splice site mutations indicate that penetrance requires the co-inheritance of a low expressing wild-type (WT) allele alongside the mutant allele [ 13 , 14 ], whereas the presence of a high expressing WT allele is protective. (molvis.org)
Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
Genetic diseases are caused by chromosomal alterations or gene mutations. (vin.com)
Disease-causing mutations are heritable changes in the sequence of genomic DNA that alter the expression, structure, and function of the coded protein. (vin.com)
We searched for mutations in the EGFR gene in primary tumors from patients with non-small-cell lung cancer who had a response to gefitinib, those who did not have a response, and those who had not been exposed to gefitinib. (nih.gov)
The functional consequences of identified mutations were evaluated after the mutant proteins were expressed in cultured cells. (nih.gov)
A subgroup of patients with non-small-cell lung cancer have specific mutations in the EGFR gene, which correlate with clinical responsiveness to the tyrosine kinase inhibitor gefitinib. (nih.gov)
Mutations of the BRAF gene can cause certain inherited diseases and birth defects. (news-medical.net)

To facilitate the study of these neurons, transgenic mice were generated that express enhanced green fluorescent protein (EGFP) in subpopulations of GABAergic neurons. (jneurosci.org)
In all these diseases, a mutant protein that misfolds causes the degeneration and death of neurons. (lifeboat.com)
Nuclear transport protein RanGAP1 (red) clumps up with mutant Huntingtin protein (green) in neurons. (hopkinsmedicine.org)
By using antibodies with glowing markers that bind to specific proteins and viewing the neurons under the microscope, Grima saw that the mutant Huntingtin protein clumped up in the same location of the cell as abnormal clumps of RanGAP1, the nuclear transport protein. (hopkinsmedicine.org)
Further understanding of mechanisms rendering neurons sensitive to mutant huntingtin may reveal novel targets for therapeutic interventions. (lu.se)
A detailed study of gene expression in their brains suggested that NAM improved the functioning of their motor neurons' - Note: See previous newsletters. (qualitycounts.com)
Emanuele - I'm working on a protein called TDP-43, and that is the main protein that is aggregating in neurons of patients affected by ALS. (thenakedscientists.com)
And what we're doing in the lab is trying to understand why it aggregates and especially the consequences of its aggregation, trying to understand why these neurons are dying when this protein is aggregating. (thenakedscientists.com)

Aggregation of VSV M protein is reversible and mediated by nucleation sites: implications for viral assembly. (microbiologyresearch.org)
The disease is an autosomal dominant condition with a disease-causing CAG repeat expansion in the first exon of the huntingtin gene that leads to the production and aggregation of abnormal protein in the brain. (biospace.com)
Then, they observed significant differences in the aggregation processes of each protein and found that oligomers develop at a much greater rate in early onset cases than in aging cases of Parkinson. (sciencedaily.com)
The cellular stress and subsequent DNA damage signaling imposed by hyperactivity of these multiple molecular systems in addition to aberrant circadian rhythmicity lead to extensive protein aggregation such as α-synuclein pre-formed fibrils (α-Syn PFFs), suggesting a specific molecular pathway linking circadian rhythmicity, PARP1/E3 ligase activity, and Parkinson's disease. (frontiersin.org)
For example, viral infection, stress and the regulation of other proteins can also change the aggregation of p53 protein ( 20 ). (spandidos-publications.com)
Song C, Wang Q, Li CC. Characterization of the aggregation-prevention activity of p97/valosin-containing protein. (medlineplus.gov)
A number of normal (wild-type) and mutant proteins are susceptible to such misfolding and aggregation (amyloidogenic proteins), thus accounting for the wide variety of causes and types of amyloidosis. (msdmanuals.com)

LEXINGTON, Mass. and AMSTERDAM, Feb. 07, 2022 (GLOBE NEWSWIRE) -- uniQure (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced the dosing of the first two patients in its European open-label Phase Ib/II clinical trial of AMT-130, a potential one-time gene-therapy approach for the treatment of Huntington's disease. (biospace.com)

Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
The milder phenotype results from significant mutant protein activity. (orpha.net)
The genotype refers to the animal's genetic makeup, reflected by its DNA sequence, whereas the phenotype relates to the clinical manifestation of specific gene(s) and environment, or both. (vin.com)

The TP53 gene plays an important role in regulating the cell cycle, apoptosis and DNA damage repair ( 8 , 9 ). (spandidos-publications.com)
Wild-type TP53 can inhibit the cell cycle and activate apoptosis-related genes that induce apoptosis and regulate cell proliferation ( 10 ). (spandidos-publications.com)
Furthermore, GSOs protected cells against GLU-induced apoptosis by reducing the expression of the mitochondrial apoptosis-associated Bcl-2 family effector proteins and protected cells from GLU-induced oxidative damage by increasing the nuclear translocation of Nrf2 and HO-1 expression. (sdbonline.org)
Despite the markedly reduced lung size, proliferation and differentiation of the lung epithelium was not affected by the lack of mesenchymal expression of the Tgf-β1 gene, while apoptosis was significantly increased in the mutant lung parenchyma. (nih.gov)
Fosfoproteína nuclear codificada por el gen p53 (GENES P53) cuya función normal es controlar la PROLIFERACIÓN CELULAR y la APOPTOSIS. (bvsalud.org)
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. (bvsalud.org)

The disease occurs when a short section of DNA that encodes ataxin-7 gene is erroneously repeated - like a word in a book printed two or three times. (lifeboat.com)
In many cases, the disease gene encodes a component of phototransduction or allied processes with expression confined to the retina, for example the rod visual pigment (reviewed in [ 1 ]), or peripherin-RDS [ 2 ], but not all RP genes show such a restricted pattern of expression. (molvis.org)
The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
BRAF encodes the B-Raf protein, which is involved in signal transduction inside cells. (news-medical.net)

Mutated protein can have single amino acid change (minor, but still in many cases significant change leading to disease) or wide-range amino acid changes by e.g. truncation of C-terminus after introducing premature stop codon. (wikipedia.org)
A comparison of the predicted amino acid sequence with that of the E. coli penicillin-binding protein 5 indicated that these enzymes showed about 25% identity. (ox.ac.uk)
Patients must maintain a diet with limited amounts of protein (1 g/kg) and amino acid mixtures. (medscape.com)
Mutant proteins have a region consisting of the same amino acid (glutamine) many times, called poly-glutamine, which makes the proteins clump together inside brain cells. (scienceblog.com)
The variants associated with IBMPFD each change a single protein building block (amino acid) in valosin-containing protein. (medlineplus.gov)
The hepatic urea cycle is the major route for waste nitrogen disposal, which is chiefly generated by protein and amino acid metabolism. (medscape.com)

Grima used two mouse models of Huntington's disease: one with a human version of the mutant Huntingtin protein and another with an aggressive form of the disease that contains only the first portion of the mouse Huntingtin protein. (hopkinsmedicine.org)
Grima also observed this same clumping of Huntingtin protein with RanGAP1 and nuclear pore proteins to the wrong place in the cell in brain tissue and cultured brain cells derived from deceased patients with Huntington's disease. (hopkinsmedicine.org)
The mutant huntingtin protein is ubiquitously expressed, but only certain brain regions are affected. (lu.se)
Our scFv (INT41) reduced the accumulation of the toxic N-terminal fragment of the mutant huntingtin protein in both in vitro and in vivo animal studies. (bio.org)

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is defined by a cytosine, adenine, guanine (CAG) repeat expansion in exon 1 of the huntingtin gene leading to the production of mutant huntingtin (mHtt). (bmj.com)
Missense variants in the α-tectorin gene (TECTA) cause autosomal dominant (DFNA8/A12) non-syndromic hearing loss (ADNSHL) and account for a considerable number of ADNSHL cases. (bvsalud.org)

This leads to the production of an abnormal protein called progerin that interferes with cell division and causes many symptoms of premature ageing. (newscientist.com)

The GAS1 protein promotes Hedgehog signaling, and thus by inhibiting Gas1 expression, menin and PRMT5 effectively dial down the pathway's tendency towards cell proliferation. (medindia.net)

Ju JS, Miller SE, Hanson PI, Weihl CC. Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease. (medlineplus.gov)
Knowing that four proteins may underlie the disease also presents its own challenge. (ufl.edu)

Scientists have created a tool for mopping up the clumps of mutant protein that drive neurodegeneration in Huntington's disease. (scienceblog.com)
Li and his colleagues showed that cultured cells that make both the intrabody and mutant huntingtin are able to get rid of the mutant protein faster and have fewer clumps of huntingtin. (scienceblog.com)
The proteins form clumps (aggregates) that interfere with the normal functions of these cells. (medlineplus.gov)
It also clumped up in the same location as abnormal clumps of nuclear pore proteins NUP88 and NUP62. (hopkinsmedicine.org)

BoPrP, bovine prion protein. (cdc.gov)
Chiesa R , Piccardo P , Quaglio E , Drisaldi B , Si-Hoe SL , Takao M , Molecular distinction between pathogenic and infectious properties of the prion protein. (cdc.gov)
Spontaneous neurodegeneration in transgenic mice with mutant prion protein. (cdc.gov)
The human cellular prion protein (PrP C ) is a glycosylphosphatidylinositol (GPI) anchored membrane glycoprotein with two N-glycosylation sites at residues 181 and 197. (mdpi.com)

The serine/threonine protein kinase BRAF is an important player in the mitogen-activated protein kinase (MAPK) signaling pathway that transduces mitogenic signals from activated cell-surface growth factor receptors to the cell nucleus and as a result modulates many important cellular processes, such as tumor growth, differentiation, proliferation, and angiogenesis. (hindawi.com)
This is because Drosophila genes controlling fundamental cellular functions, such as cell growth and death, are quite identical to those found in human cells. (ataxia.org)
B-Raf is a protein encoded by the BRAF gene and is involved in the RAS/MAPK pathway, which regulates cellular growth and division. (news-medical.net)
Ranum said further research is needed, and it will be important to understand how these proteins are being made without the normal cellular signals and if strategies to block their production can be developed. (ufl.edu)
However, some prefibrillar oligomers of amyloidogenic proteins have direct cellular toxicity, an important component of disease pathogenesis. (msdmanuals.com)

Our patients have been very interested in the potential for a one-time treatment to stop progression of the disease and, given the recent setbacks in Huntington's disease research it means a lot to the Polish HD Community to be able to enroll the first patients in this first EU gene therapy trial. (biospace.com)
Using AAV vectors to deliver micro-RNAs directly to the brain for non-selective knockdown of the huntingtin gene represents a highly innovative and promising approach to treating Huntington's disease. (biospace.com)
We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary gene therapies to treat patients with hemophilia B, Huntington's disease, Fabry disease, spinocerebellar ataxia Type 3 temporal lobe epilepsy, Alzheimer's, Parkinson's and ALS. (biospace.com)
Emory University researchers engineered a virus to make an intracellular antibody or "intrabody" against huntingtin, the protein whose mutant forms poison the brain cells of people with Huntington's. (scienceblog.com)
Vybion is a virtual gene therapy company with Orphan Designation from the FDA for a Huntington's Disease therapy. (bio.org)
University of Florida Health researchers have made a new discovery about Huntington's disease, showing that the gene that causes the fatal disorder makes an unexpected "cocktail" of mutant proteins that accumulate in the brain. (ufl.edu)
Along with a protein already implicated in Huntington's disease, the researchers found four proteins that also contribute to the disease pathology. (ufl.edu)
Bañez-Coronel said this was the first time the accumulated proteins related to Huntington's disease were extensively found in white matter, an inner part of the brain containing cells that support neuronal function. (ufl.edu)
Knowing that rogue proteins are implicated in Huntington's disease is just the first step. (ufl.edu)

The CLOCK/BMAL1 heterodimer activates the transcription of Per/Cry genes, and the production and resulting phosphorylation of PER/CRY inhibit the CLOCK/BMAL1 heterodimer, reducing the transcription of Per/Cry forming the negative feedback loop required to maintain circadian rhythmicity at a basic molecular level. (frontiersin.org)
It catalyzes phosphorylation of serine and threonine on target proteins, converting adenosine triphosphate (ATP) to adenosine diphosphate (ADP). (news-medical.net)
To shed light on the mechanism of lung hypoplasia, we quantified the phosphorylation of 226 proteins in the mutant E12.5 lung compared with control. (nih.gov)

Several neurodegenerative diseases appear to involve defects in protein folding and metabolism, leading to the accumulation of protein aggregates inside cells," he says. (scienceblog.com)
Our study suggests a strategy for dissecting the harmful effects of these protein aggregates in other diseases. (scienceblog.com)
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. (medlineplus.gov)
Today, many hereditary diseases are well characterized from clinical signs to the gene defect, precise diagnostic tools have been developed to detect affecteds but also carriers, specific treatments can be offered for a few, and genetic counseling with breeder clients can improve the health of small animals in future generations. (vin.com)

First, a full-length functional ZIKV cDNA clone was engineered as a bacterial artificial chromosome, with each reporter gene under the cap-independent translational control of a cardiovirus-derived internal ribosome entry site inserted downstream of the single open reading frame of the viral genome. (mdpi.com)
Al-Taweel K, Iwaki T, Yabuta Y, Shigeoka S, Murata N, Wadano A (2007) A bacterial transgene for catalase protects translation of D1 protein during exposure of salt-stressed tobacco leaves to strong light. (springer.com)

Such proteins contain sequence features that function as address labels, telling the protein which condensate to move into. (mpg.de)
It phosphorylates a specific sequence on protein targets. (news-medical.net)

Researchers haveidentified for the first time the initial steps of alpha-synuclein protein aggregates related to early onsets of hereditary Parkinson cases. (sciencedaily.com)
For the first time, scientists observed how variants of the Parkinson's disease-associated protein alpha-synuclein change over time and were able to identify the initial stages of protein aggregates linked to early onset of familial cases of the disease. (sciencedaily.com)

Fluorescence in situ hybridization (FISH) is a molecular pathological method with high sensitivity and specificity, which uses specific DNA probes to detect chromosomal aberrations, as well as gene deletion and amplification ( 21 , 22 ). (spandidos-publications.com)

Part of the gene encoding penicillin-binding protein 5 from Bacillus subtilis 168 was cloned in Escherichia coli with a synthetic oligonucleotide as a hybridization probe. (ox.ac.uk)

As the researchers found out, BPTAS is caused by a special genetic change that causes an essential protein to migrate to the nucleolus, a large proteinaceous droplet in the cell nucleus. (mpg.de)
This protein has the task of organizing the genetic material in the cell nucleus and facilitates the interaction of other molecules with the DNA, for example to read genes. (mpg.de)
However, some are very rare, genetic disorders that are the consequence of a defective gene. (lifeboat.com)
RanGAP1 in turn helps move molecules through nuclear pores that serve as passageways in the nucleus, letting proteins and genetic material flow in and out of it. (hopkinsmedicine.org)
The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
With the recent completion of the canine and feline genome sequences, the unique traits of breeds, many hereditary disorders and genetic predispositions to disease have been characterized from the clinical signs to the gene defect. (vin.com)
This was a surprise to the researchers because these RAN proteins are made without a signal in the genetic code that was previously thought to be required for protein production. (ufl.edu)

Six variants (all identified by WGS) involved MLLT1 , a gene not previously reported to be involved in WT. (nature.com)
WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made. (bvsalud.org)

Patients with MLLT1 -mutant tumours present at a younger age and have a high prevalence of precursor intralobar nephrogenic rests. (nature.com)
Before forming such filaments, proteins undergo an intermediate stage, the oligomers, which are also present in the brains of Parkinson's patients. (sciencedaily.com)
To track down the cause, he and his colleagues decoded the genome of five affected individuals and found that the gene for the protein HMGB1 was altered in all patients. (mpg.de)
Alzheimer's patients exhibit high degradation of the suprachiasmatic nucleus (SCN), the central endogenous circadian timekeeper, and Parkinson's patients have highly disrupted peripheral clock gene expression. (frontiersin.org)
fragmented sleep has been shown to affect tau-protein accumulation in Alzheimer's patients, and rapid eye movement (REM) behavioral disorder is observed in a significant amount of Parkinson's patients. (frontiersin.org)
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. (medlineplus.gov)
Significantly, Hua's team found that menin mutant proteins associated with MEN1 cancer in patients were impaired in their ability to interact with PRMT5, and thus, in adding the methyl chemical group to the Gas1 promoter gene. (medindia.net)
In the cerebellum - a part of the brain at the back of the skull that controls movement and motor coordination - the discovery of RAN proteins suggests that they may be responsible for some of the typical uncontrolled movements observed in Huntington disease patients, researchers said. (ufl.edu)

In response to widespread demand, AMSBIO has developed a custom service to provide ready-to-use in vitro and in vivo grade lentiviral particles pseudotyped with coronavirus S protein. (onenucleus.com)
Lentivirus can effectively transduce both dividing and non-dividing mammalian cells, and integrate into the host genome, allowing stable long-term, high-level gene expression both in vivo and in vitro. (onenucleus.com)
In vitro, EGFR mutants demonstrated enhanced tyrosine kinase activity in response to epidermal growth factor and increased sensitivity to inhibition by gefitinib. (nih.gov)

Here we identify valosin-containing protein (VCP) as a regulator of p53-R273H by conducting immunoprecipitation-tandem mass spectrometry analysis. (aacrjournals.org)
The VCP gene provides instructions for making an enzyme called valosin-containing protein. (medlineplus.gov)
Valosin-containing protein is part of the ubiquitin-proteasome system, which is the machinery that breaks down (degrades) unneeded proteins within cells. (medlineplus.gov)
Researchers believe that most of the functions of valosin-containing protein are directly or indirectly related to the ubiquitin-proteasome system. (medlineplus.gov)
Guinto JB, Ritson GP, Taylor JP, Forman MS. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. (medlineplus.gov)

Our goal here was to create a tool that could distinguish between the accumulation of mutant proteins in the nucleus and the cytoplasm," he says. (scienceblog.com)

RAF genes encode serine and threonine kinase proteins downstream of Ras in the pathway. (news-medical.net)

The aim of the present study was to investigate the association between tumor protein 53 (TP53) gene deletion and protein expression and clinical features in esophageal squamous cell carcinoma (ESCC), and to evaluate the predictive value of these two characteristics in the prognosis of ESCC. (spandidos-publications.com)
Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) were performed to detect the expression of p53 protein and gene deletion in ESCC tissue samples from different ethnic groups in Xinjiang, in order to analyze their association with clinicopathological characteristics and patient prognosis, as well as the sensitivity and specificity of the two methods. (spandidos-publications.com)

The therapeutic goal is to inhibit the production of the mutant protein (mHTT). (biospace.com)

The mutant MLLT1 protein shows altered binding to acetylated histone tails. (nature.com)
The menin-PRMT5 complex binds to the promoter of the Gas1 gene, where PRMT5 (an enzyme that adds methyl groups to histone proteins) functions as an epigenetic inhibitor, tamping down gene transcription. (medindia.net)

The intrabody binds huntingtin proteins with expanded poly-glutamine regions and it only works in the cytoplasm, not the nucleus. (scienceblog.com)

We demonstrate that the R6/2 transgenic mouse model expressing a short fragment of mutant HTT displays hypothalamic neuropathology with discrete loss of the neuronal populations expressing orexin, MCH, CART, and orexin at 12 weeks of age. (lu.se)

We have to get to the bottom of why these junk proteins accumulate in the brain and we need to figure out how to block that process," Ranum said. (ufl.edu)
In addition to finding that the RAN proteins accumulate in the striatum, a specific brain region predominantly affected in Huntington disease, researchers also found them in the frontal cortex, cerebellum and white matter regions of the brain. (ufl.edu)
These proteins may accumulate locally, causing relatively few symptoms, or widely, involving multiple organs and causing severe multiorgan failure. (msdmanuals.com)

Lack of mesenchymal expression of the Tgf-β1 gene was also associated with reduced lung branching morphogenesis, with accompanying inhibition of the local FGF10 signaling pathway as well as abnormal development of the vascular system. (nih.gov)
This study uncovered a new layer of regulation of pro-proliferative genes by menin via the Hedgehog signaling pathway," Hua says. (medindia.net)

Both WT and mutant proteins undergo ECD cleavage. (dana-farber.org)

In mice, a complete loss of the gene on both chromosomes is catastrophic and leads to death of the embryo. (mpg.de)

Changes in the structure of this enzyme impair its ability to break down other proteins as part of the ubiquitin-proteasome system. (medlineplus.gov)
The product of this gene is an enzyme that plays a key role in DNA repair processes whose defective activity causes failure to reseal broken DNA strands causing neurodegeneration. (ataxia.org)
A mutant enzyme protein impairs the reaction that leads to condensation of carbamyl phosphate and ornithine to form citrulline. (medscape.com)
The gene for this enzyme is normally expressed in the liver and is intramitochondrial. (medscape.com)
Unlike many cancer-associated proteins, menin is neither an enzyme nor a signaling receptor. (medindia.net)

Inhibition of the kinase domain is halted through binding of the Ras-binding domain, or residues 155-227 of the protein, to the Ras-GTP effector domain. (news-medical.net)

Close-ups of cell nuclei in a human cell culture: HMGB1 protein (green) is usually found throughout the nucleus (dotted line). (mpg.de)

Substitution of Val 113 in Sendai virus (SeV) M protein generates non-functional polypeptides, characterized by their exclusion from virus particles and by their ability to interfere with virus particle production. (microbiologyresearch.org)

An intriguing aspect to the association of these genes with retinal disease is that splicing occurs in every cell of the body so the genes must have a general housekeeping function, yet the disease pathology is restricted to the rod photoreceptors of the retina. (molvis.org)

A set of core genes constitutes this transcriptional pathway that forms the identity of the endogenous circadian pacemaker. (frontiersin.org)

Injecting the virus into the brains of mice that make mutant huntingtin improves their ability to move their limbs, although it does not prolong their lives. (scienceblog.com)
Although other researchers have shown that various intrabodies can protect cells from mutant huntingtin, the Emory team was the first to examine the effects of an intrabody in living mice, says senior author Xiao-Jiang Li, PhD, professor of human genetics at Emory University School of Medicine. (scienceblog.com)
Even though the intrabody only travels within the cytoplasm, it still alleviated the motor problems of mice that make mutant huntingtin when injected into the striatum, the scientists found. (scienceblog.com)
CRISPR gene editing has been used to more than double the lifespan of mice engineered to have the premature ageing disease progeria , also greatly improving their health. (newscientist.com)
He and his colleagues have now used a CRISPR base editor to correct the single-letter change that causes almost all cases of progeria, first in skin cells taken from a person with progeria and then in mice with a human version of the lamin A gene. (newscientist.com)
Because the mice had the human gene, exactly the same approach could be used in human trials. (newscientist.com)

If we understand the protein species forming during the early stages of disease conversion, we can propose new therapies for disease detection before the symptoms appear," he adds. (sciencedaily.com)
Some pharmaceutical companies are developing inhibitors of B-Raf protein as anticancer therapies. (news-medical.net)
In addition to the possibility of new therapies, detecting these proteins may be useful for predicting the disease's onset, its progression and treatment responses, researchers said. (ufl.edu)

Denaturing gel electrophoresis and immunoblot analysis reveals that levels of the PSI reaction center proteins PsaD, PsaE and PsaF were reduced due to salt stress. (springer.com)
Cyanobacterial phycobilisome (PBS) pigment-protein complexes harvest light and transfer the energy to reaction centers. (osti.gov)

In addition, AMSBIO can offer wide ranging customization options including addition of reporter genes for monitoring viral entry. (onenucleus.com)

One effective therapeutic strategy is to prevent the rogue protein from ever being made. (lifeboat.com)

The presentation entitled: 'Chromatin Conformation Signatures Associated with Epigenetic Deregulation of the FIP1L1 and PDGFRA Genes,' focused on the technical application of its EpiSwitch™ platform based on observation published in Nature by the researchers from Massachusetts General Hospital, Harvard Medical School, Broad Institute of MIT and Harvard and the Howard Hughes Medical Institute (Flavahan et al. (biospace.com)
The original study identified epigenetic changes that occurred in gliomas with mutant IDH1 protein. (biospace.com)

This protein is ubiquitously expressed and known to confer toxicity to multiple cell types. (bmj.com)

Splicing of RHO intron 3 and GNAT1 introns 3-5 mini-gene templates was inefficient with both spliced and unspliced products clearly detected. (molvis.org)

This resembles the β-amyloid precursor protein (APP) in Alzheimer disease (AD), which can be physiologically processed by α-, β-, and γ-secretases. (mdpi.com)
The researchers also found evidence of which protein species are important for the amyloid filaments growth. (sciencedaily.com)
In addition to the fibrillar amyloid protein, the deposits also contain serum amyloid P component and glycosaminoglycans. (msdmanuals.com)

In addition, structural data confirms the paradoxical behavior of glucose, where it replaces the high-affinity ligand(s) (disaccharide α-glycosides) from the active site of the protein. (rcsb.org)
The B. subtilis dacA gene was mutated by integration of a plasmid into the structural gene by homologous recombination. (ox.ac.uk)
We have studied the structural effects of three mutant proteins involving those sites, i.e. (tmu.edu.tw)
A protease-resistant protein is a structural component of the scrapie prion. (cdc.gov)

Moreover, MLLT1 -mutant tumours show an increase in MYC gene expression and HOX dysregulation. (nature.com)
Subsequently we showed that INT41 reduces the binding of N-terminal toxic fragments to DNA along with subsequent reduction in gene dysregulation. (bio.org)

Each of the four RAN proteins contains long repeats of certain single protein building blocks, or amino acids. (ufl.edu)
On the basis of their findings, the researchers believe there is a possibility that RAN proteins contribute to eight other similar neurodegenerative disorders, including spinobulbar muscular atrophy and several types of spinocerebellar ataxia, which are also caused by an abnormal increase in the number of CAG repeats. (ufl.edu)

The positive rate of p53 protein expression was 54.5% (201/369) in the multi‑ethnic group, and was significantly different between sex (P=0.026) and between tumor differentiation groups (P=0.032). (spandidos-publications.com)
However, other previous studies reported that the expression of p53 protein had no significant association with the prognosis of esophageal cancer ( 18 , 19 ). (spandidos-publications.com)
Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1BS148L/+ but not wild-type HNF1B or HNF1A. (harvard.edu)
Furthermore, HNF1B does not appear to directly regulate PAX6 gene expression necessary for glucose tolerance. (harvard.edu)
This focuses on the expression of the human tdp1 mutant gene in brain tissue of flies lacking the endogenous Gkt protein. (ataxia.org)
Using microarray analysis, his team found that loss of menin results in increased expression of the Gas1 gene. (medindia.net)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

The mutant gene makes RNA molecules that stick to a transport protein, RanGAP1. (hopkinsmedicine.org)

It also regulates the level of proteins involved in several critical cell activities, such as the timing of cell division and growth. (medlineplus.gov)

As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
Our study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. (bvsalud.org)

We previously showed that the toxicity is both linked to a loss and a gain of function of the mutant protein but the neuronal role of the TG6 is still not known. (ataxia.org)

Reduced heat resistance of mutant spores after cloning and mutagenesis of the Bacillus subtilis gene encoding penicillin-binding protein 5. (ox.ac.uk)

Li says finding an antibody that prefers to bind mutant, aggregated protein could also prove useful in the study of other neurodegenerative disorders, such as Alzheimer's disease or Creutzfeldt-Jakob disease. (scienceblog.com)
Huntington disease (HD) is a fatal neurodegenerative movement disorder caused by an expanded CAG repeat in the huntingtin gene (HTT). (lu.se)

Our results demonstrate compensatory mechanisms in the pancreatic transcription factor network due to mutant HNF1BS148L/+ protein. (harvard.edu)

Anatomy20

Organisms20

Diseases3

Chemicals and Drugs90

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Psychiatry and Psychology1

Phenomena and Processes95

Disciplines and Occupations1

Information Science3

Health Care3

Mutation21

Mutations27

Neurons8

Aggregation7

20221

Phenotype3

Apoptosis6

Encodes5

Amino acid6

Huntingtin protein4

Autosomal dominant2

Production of an abnormal protein1

Cell proliferation1

Underlie2

Clumps4

Prion protein4

Cellular5

Huntington's9

Phosphorylation3

Diseases4

Bacterial2

Sequence2

Aggregates2

Molecular1

Escherichia1

Genetic7

Variants2

Patients8

Vitro3

Valosin-contain5

Accumulation1

Encode1

Deletion2

MHTT1

Histone2

Binds1

Transgenic1

Accumulate3

Signaling pathway2

Undergo1

Chromosomes1

Enzyme5

Effector1

Nucleus1

Interfere1

Pathology1

Transcriptional1

Mice6

Therapies3

Reaction2

Viral1

Therapeutic1

Epigenetic2

Ubiquitously expressed1

Inefficient1

Amyloid3

Structural4

Dysregulation2

Repeats2

Expression7

Molecules1

Regulates1

Humans2

Neuronal1

Mutagenesis1

Neurodegenerative2

Transcription1