Cells mutant proteins. Medical search. Frequent questions

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)
However, there is no consensus on what mechanisms trigger aggregation, neuronal cell loss, and degeneration, neither how toxic the aggregates and the oligomers are to the cells. (sciencedaily.com)
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)
In Huntington's disease (HD) the disease provoking mutation in the huntingtin gene eventually causes the cell to build up intranuclear and cellular inclusions of protein-aggregates, made up primarily of huntingtin. (science20.com)
In Huntington's disease (HD) brains and other tissues, UPS activity is inhibited and intraneuronal nuclear protein aggregates of mutant huntingtin in HD brains indicate dysfunction of the UPS. (science20.com)
The pathological hallmark of HD is the intraneuronal nuclear protein aggregates of mutant huntingtin. (science20.com)
TDP-43 pathology includes cytoplasmic aggregates of the normally nuclear protein. (alzforum.org)
Translation of these hexanucleotide repeat sequences gives rise to dipeptide-repeat proteins, which form intracellular protein aggregates in neuronal and non-neuronal cells of affected patients. (europa.eu)
Protein aggregates in neurons are characteristic for Alzheimer's, Parkinson's and other neurodegenerative diseases. (unibas.ch)
Mutant vasopressin forms pathological protein aggregates (red) instead of natural granules (green) in the nerve cells. (unibas.ch)
Also in the case of the hormone vasopressin, only the negative effects of such protein aggregates have been recognized so far: Mutations in the vasopressin gene prevent the correct folding of the defective hormone causing it to be retained in the secretory pathway. (unibas.ch)
These are amyloid-like protein aggregates that are physiologically important. (unibas.ch)
Harmful protein aggregates produced by defective proteins appear to be an adverse result of the ability to form granules. (unibas.ch)
The researchers further plan to clarify the effects of vasopressin at the structural level and whether protein aggregates reflect a general principle of granule formation. (unibas.ch)
In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
Electron microscopy reveals loss of desmosomes (epithelial intercellular junctions formed by membrane and submembrane protein complexes), breakdown of desmosome-keratin intermediate filament attachment, and perinuclear aggregates of keratin intermediate filaments. (medscape.com)

Huntington's disease (HD), a severe, inherited neurodegenerative disease that remains without a cure, is caused by an inherited genetic defect in the huntingtin (HTT) gene, which codes for the protein of the same name. (huntington.cl)
Overall, this gene silencing strategy allowed researchers to establish "the first human induced pluripotent stem cells with stable huntingtin knock-down, and they can be helpful for in vitro research on huntingtin functions in human development," the study concluded. (huntington.cl)
Arfaptin-2 is a protein that in humans is encoded by the ARFIP2 gene. (wikipedia.org)
Analysis of the Sendai virus M gene and protein. (microbiologyresearch.org)
We are trying to understand the functional consequences of SUMO-protein modification, particularly in the cell cycle and chromatin-mediate gene transcription, and to determine the basis of specificity for the SUMO-cleaving proteases. (yale.edu)
To assess the role of an individual HDAC isoenzyme in physiology and tumor development, HDAC2-mutant mice were generated from a gene trap embryonic stem cell clone. (aacrjournals.org)
Complex patterns of posttranslational modifications of chromatin including acetylation of histones establish combinatorial signals that are apparently interpreted by chromatin-binding proteins and the gene expression machinery to control transcriptional activity of individual genes. (aacrjournals.org)
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)
The mutant gene makes RNA molecules that stick to a transport protein, RanGAP1. (hopkinsmedicine.org)
In a recent study published in Cell, first author, Hao Huang, PhD, and senior author, Rani George, MD, PhD , show that extracellular domain (ECD) cleavage of the ALK cell surface tyrosine kinase receptor mediates neuroblastoma cell migration through induction of an epithelial-to-mesenchymal transition (EMT) gene signature. (dana-farber.org)
FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function. (frontiersin.org)
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)
Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
These defects are mediated by increased expression of a protein called Xrp1, which is involved in gene expression regulation. (europa.eu)
Using a transgenic mouse model in which an ALS-like mutation was introduced in the mouse Fus gene, we could show that ALS pathology starts at the neuromuscular juction (the transition between motor nerves and skeletal muscle cells), long before motor neuron cell bodies in the spinal cord degenerate. (europa.eu)
Xrp1 is a DNA-binding protein that is involved in gene expression regulation. (europa.eu)
RR CC was named for its morphologic resemblance to pediatric malignant rhabdoid tumor (MRT) of the kidney, which is a highly aggressive tumor characterized by cells that resemble rhabdomyoblasts and by genetic alterations involving chromosome 22, particularly the hSNF5/INI1 gene on 22q11.2. (medscape.com)
This value is calculated by the PC GENE computer analysis program of protein sequences (IntelliGenetics). (prospecbio.com)
During a search for genes involved in this left-right patterning, the Burdine team discovered that mutations in a gene they called kur , which codes for the Kurly protein, were linked to errors in left-right orientation in zebrafish heart. (princeton.edu)
When the researchers knocked out the kur gene, the dynein proteins failed to form in the proper location. (princeton.edu)
The Northwestern team showed that when the kur gene was inactivated using a gene-editing technique called CRISPR-Cas9, the lack of a functioning Kurly protein led to the mis-positioning of a second protein on the cell surface called Prickle2, which helps cells know which direction they face. (princeton.edu)
Identification of Potato Nuclear Proteins Binding to the Distal Promoter Region of the Proteinase Inhibitor-Ii Gene. (mpg.de)
The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. (medlineplus.gov)
Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. (medlineplus.gov)
The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). (medlineplus.gov)
which means both copies of the gene in each cell have mutations. (medlineplus.gov)
These cases arise from mutations in the ATP8B1 or ABCB11 gene that occur in the body's cells after conception and are not inherited. (medlineplus.gov)
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. (bvsalud.org)
GH-secreting tumors are largely sporadic, but genetic abnormalities in the X chromosome (X-linked acrogigantism), overexpression of the pituitary tumor transforming gene ( PTTG ), and mutations in the aryl hydrocarbon receptor-interacting protein (AIP) have been discovered. (msdmanuals.com)
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. (lu.se)
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. (lu.se)

Ubiquitin and an array of related molecules (ubiquitin-like proteins or Ubls) such as SUMO are small, highly conserved proteins that are covalently attached to other intracellular proteins, resulting in various functional alterations of these targets. (yale.edu)
Intracellular iron levels are elaborately balanced by iron efflux, uptake, and storage proteins that are regulated by iron regulatory proteins (IRPs, including IRP1 and IRP2) [ 16 ]. (nature.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)
Our studies demonstrate that different intracellular concentrations of 2-HG correlate with critical cellular functions that can mean life or death for cancer cells," said Chen. (genengnews.com)
The transient receptor potential melastatin 4 (TRPM4) protein is an intracellular Ca 2+ -activated non-selective cation channel, which is impermeable to Ca 2+ . (frontiersin.org)
To accomplish that, a number of intracellular systems work in concert to keep the cell healthy and from clogging up with damaged proteins. (science20.com)
When proteins or peptides mutate, they can present major problems to the clearing up of the intracellular environment. (science20.com)
Some family members, such as latrophilins and gliomedin, are membrane-bound proteins containing the olfactomedin domain in the extracellular N-terminal region, while the intracellular C-terminal domain of these proteins is essential for the transduction of extracellular signals to the intracellular signaling pathway. (nih.gov)
Expression of Mutant Patatin Protein in Transgenic Tobacco Plants - Role of Glycans and Intracellular Location. (mpg.de)
for example, H-FABP makes up 3% of the plasmic intracellular LBPs from three different cytoplasmic protein content in rat heart. (lu.se)

Also, our mutants induced proliferation, glucose uptake, inhibited the migration of 293T cells and affected the responsiveness of the cells to cisplatin and radiation. (scielo.br)
Even when immune cells from Atm-S1987A-rescued mice are treated with radiation, several signs of normal cell cycle inhibition were observed, including decreased rate of DNA synthesis and decreased cell proliferation. (nih.gov)
Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase, Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro. (nih.gov)
SM is a rare, genetic condition characterized by the frenzied and uncontrollable activation and proliferation of mast cells, a type of white blood cell. (biospace.com)
In this way, Ayvakit suppresses the proliferation of mast cells bearing the D816V mutation. (biospace.com)
We discovered that myocilin increased cell proliferation and survival. (nih.gov)
than 0.1% as determined by inducing proliferation of BAF/3 cells stably transfected with the long form of human leptin receptor. (prospecbio.com)

Moreover, they observed that the filaments have distinct structures depending on the protein mutation from which they originate. (sciencedaily.com)
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)
In wild-type fibroblasts, TDP-43 has a four-hour half-life, but this rises to 11 hours in cells from a person carrying the G298S mutation. (alzforum.org)
The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
Mutant Huntingtin is the cause of the complex neurological metabolic alteration of Huntington's disease, resulting in both the loss of all the functions of normal Huntingtin and the genesis of abnormal interactions due to the presence of this mutation. (benthamscience.com)
Normal cells contain as many as 35 of these repeats, but sometimes mutation pushes the number of repeats beyond 50, which can lead to symptoms of the disease. (illinois.edu)
This mutation results in the accumulation of Aβ in cerebral vessel walls which is associated with cell death and loss of vessel wall integrity. (alzforum.org)
The researchers also found that the mutation they discovered rendered the Kurly protein sensitive to temperature, and used this trait to find that the Kurly protein may be involved in initiating movement rather than keeping the cilia moving once they've started. (princeton.edu)
Inhibition ELISA with the mutant proteins indicated that epitope 126-131 was the dominant epitope, but mutation of epitope 120-125 was also required to eliminate mAb reactivity to Hev b 5. (cdc.gov)
The frameshift mutation results in the formation of a truncated protein which cannot fold properly, promoting aggregation, and subsequent deposition in tubular cells. (medscape.com)

The proteasome is a molecular machine that fragments proteins into short peptides. (yale.edu)

Aggregation of VSV M protein is reversible and mediated by nucleation sites: implications for viral assembly. (microbiologyresearch.org)
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)
However, protein aggregation can also have an important physiological function. (unibas.ch)
Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes. (medscape.com)

The heavy chain diseases (HCDs) are B-cell proliferative disorders characterized by production of abnormal, structurally incomplete, immunoglobulin heavy chains without the corresponding light chains. (medscape.com)
In γ-HCD, a mutant lymphoplasmacytoid cell clone synthesizes an abnormal IgG protein. (medscape.com)
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)
It also clumped up in the same location as abnormal clumps of nuclear pore proteins NUP88 and NUP62. (hopkinsmedicine.org)
Bringing the cell cycle to a standstill after DNA damage occurs allows time for the cell's machinery to fix the errors before abnormal cells are generated. (nih.gov)
Appropriate cell cycle regulation by ATM and other proteins is necessary to prevent abnormal cell growth, which can lead to cancer. (nih.gov)
Hairy cell leukemia occurs when abnormal, hairy-looking white blood cells build up in the bone marrow , spleen , and bloodstream. (cancer.gov)
From these results, we hypothesized that enhancing UPS function would improve catalytic degradation of abnormal proteins in HD. (science20.com)
These remarkable results demonstrate for the first time that it is possible to intervene therapeutically in the proteolytic pathways and organelles that participate in the specific degradation of misfolded and abnormal proteins. (science20.com)
[ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)

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)
2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. (scielo.br)
When white blood cells that normally fight infection acquire mutations that cause them to multiply excessively, AML results. (genengnews.com)
Then, a survey is given about ATP1A2 mutations implicated in migraine cases as documented in the literature with focus on mutations that were described to completely destroy enzyme function, or lead to misfolded or mistargeted protein in particular model cell lines. (frontiersin.org)
The mechanisms by which specific ATP2A2 mutations impact the function of the ATP2A2 protein have been investigated using an in vitro model. (medscape.com)
[ 22 ] Investigators transfected a fibroblast cell line with 51 different mutations seen in keratosis follicularis (Darier disease) pedigrees. (medscape.com)
Site-directed mutagenesis was used to selectively eliminate the IgG binding for each epitope and single and multiple mutations were expressed as recombinant GST fusion proteins. (cdc.gov)
Although these mutations result in phenotypic resistance to echinocandins in planktonic cells, there is little data on antifungal susceptibilities of CAS-R C. albicans strains within biofilms. (who.int)

The cells represent a potential resource to investigate the function of the huntingtin protein in vitro (in a lab culture dish or test tube). (huntington.cl)
Nuclear transport protein RanGAP1 (red) clumps up with mutant Huntingtin protein (green) in neurons. (hopkinsmedicine.org)
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 manuscript shows that cellular changes due to expression of huntingtin protein with longer CAG repeats can reduce the ubiquitin proteasome system (UPS) function in Huntington¡¦s disease cells. (science20.com)
Quantification of Total and Mutant Huntingtin Protein Levels in Biospecimens Using a Novel alphaLISA Assay. (lu.se)

We also investigated the effects of BotoxA-induced paralysis on the sprouting capacity of NMJs in the K108N-SEMA3A mutant mouse, and observed no change in the differential neuronal plasticity found at NMJs on fast-fatigable or slow muscle fibers due to the presence of the SEMA3A mutant protein. (nih.gov)
Recent studies with new cellular models, including patient-derived iPSCs and neuronal stem cells (NSCs), suggest a developmental role for the protein. (huntington.cl)
Amyloid Precursor Protein (APP) Controls the Expression of the Transcriptional Activator Neuronal PAS Domain Protein 4 (NPAS4) and Synaptic GABA Release. (uclouvain.be)
We demonstrated that Olfm1 interacts with several proteins essential for neuronal and synaptic activity. (nih.gov)
We found that Xrp1 expression is increased in cabeza mutant fruit flies, leading to neuronal dysfunction. (europa.eu)

To address the therapeutic hypothesis experimentally, we transduced UPS subunits into HD skin fibroblasts or HD mutant protein expressing striatum-derived neurons. (science20.com)
Proteasome activators involved in either the ubiquitinated or the non-ubiquitinated proteolysis were overexpressed in HD patients' skin fibroblasts or mutant huntingtin-expressing striatal neurons. (science20.com)
PA28γ also improved cell viability in mutant huntingtin-expressing striatal neurons exposed to pathological stressors, such as the excitotoxin quinolinic acid and the reversible proteasome inhibitor MG132. (science20.com)
Ling plans to examine TDP-43 stability and protein-protein interactions in neurons and patient-derived cells. (alzforum.org)
A very important finding reported in this paper is that ALS-mutant FUS protein is toxic to both skeletal muscle cells and motor neurons. (europa.eu)
This implies that future therapies for ALS-FUS should not only be directed at motor neurons but also at muscle cells. (europa.eu)
This results in the formation of insoluble protein amyloids, which destroy the vasopressin producing neurons in the brain. (unibas.ch)
The aim of the study was to investigate the potential causal relationship between the selective expression of mutant huntingtin (mHTT) in OXT neurons and the development of non-motor features and neuropathology. (lu.se)
Conclusions: Our results indicate that mHTT expression can exert cell-autonomous toxic effects on OXT neurons without affecting the non-motor phenotype at early time points in mice. (lu.se)
Effects of Deletion of Mutant Huntingtin in Steroidogenic Factor 1 Neurons on the Psychiatric and Metabolic Phenotype in the BACHD Mouse Model of Huntington Disease. (lu.se)

The expression of familial Alzheimer's disease mutants of presenilin-1 (PS1) proteins has been observed to induce cell death in cellular systems. (ox.ac.uk)
To investigate how this phenomenon might be associated to alterations of the microtubule network, we have studied the effect of wild-type and mutant (C263R, P264L and delta9) PS1 proteins expression on the formation of microtubule-dependent processes outgrowth and the association of PS1 to the insoluble cytoskeletal fraction in a cell line expressing the tau microtubule-associated protein. (ox.ac.uk)
Expression of wild-type and mutant PS1 was associated with increased cell death, most marked for the P264L and delta9 mutants. (ox.ac.uk)
We generated IRS1 expression vectors harboring p.S668T, p.D674H and double mutants. (scielo.br)
Expression of the mutants differentially affected insulin-induced phosphorylation of IRS1, AKT, ERK, and STAT3. (scielo.br)
In conclusion, decreased or increased protein expression of several TRPM4 variants linked to cardiac conduction disorders or ventricular arrhythmias were found to be caused by altered TRPM4 half-life compared to the WT form. (frontiersin.org)
We transformed expression costructs for this protien (obtained from the Rvaio lab) into competent cells containing our cpxR reporter and looked for fluoresecnt output. (igem.org)
Oppositely, expression of mutated myocilin sensitizes cells to apoptosis induced by oxidative stress. (nih.gov)
We show that dysregulation of appropriate expression of components of the fibroblast growth factor (FGF) pathway contributes to muscle developmental defects in cabeza mutant Drosophila. (europa.eu)
Expression of a Yeast-Derived Invertase in the Cell-Wall of Tobacco and Arabidopsis Plants Leads to Accumulation of Carbohydrate and Inhibition of Photosynthesis and Strongly Influences Growth and Phenotype of Transgenic Tobacco Plants. (mpg.de)
The investigators found that the resultant transfected cells showed defects in ATP2A2 protein expression (15 mutants), ATP hydrolysis (29 mutants), calcium transport (4 mutants), and calcium binding and kinetics (3 mutants). (medscape.com)
For investigation of RGS5, we hypothesize that silencing RGS5 expression using siRNA technology (5) leads to secretome changes that effect cells at the BBB. (lu.se)

The intrabody binds huntingtin proteins with expanded poly-glutamine regions and it only works in the cytoplasm, not the nucleus. (scienceblog.com)
The S. cerevisiae ORC binds to specific DNA sequences throughout the cell cycle but becomes active only when it binds to the replication initiator Cdc6. (imperial.ac.uk)
Similarly, treating hairy cell leukemia with rituximab-a drug that binds to a protein called CD20 on white blood cells-doesn't typically eliminate all of the cancer. (cancer.gov)
For example, enasidenib, a small molecule that binds and inhibits the IDH2 mutant protein, increases the maturation of leukemia cells and reduces the number of leukemic cells in animal models. (genengnews.com)

A third, more recent research focus has been on endosymbiotic bacteria that manipulate their eukaryotic hosts by secreting enzymes, including ubiquitin-specific proteases, into the host cell cytoplasm. (yale.edu)
Here, we report OTUD3 (OTU domain-containing protein 3) functions as a deubiquitylase for IRP2, interacts with IRP2 in the cytoplasm, de-polyubiquitylates, and stabilizes IRP2 protein in an iron-independent manner. (nature.com)
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)
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)
Thus we have four proteins coverning folding and non-folding in botht he periplas and the cytoplasm. (igem.org)
The interaction is most likely an early event" in disease, Ling speculated, leading up to later stages where TDP-43 and FUS, normally nuclear proteins, are mislocalized and aggregated in the cytoplasm. (alzforum.org)

The antigens in this ELISA were Equad proteins (i.e., envelope protein from each DENV serotype with 4 amino acid changes T76R, Q77E, W101R, and L107R). (cdc.gov)
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)
MalE31, a mutant with two amino acid substitutions at postion 33 and 34, does not fold and is classified as a non-folder. (igem.org)
GH initially exerts insulin -like effects, increasing glucose uptake in muscle and fat, stimulating amino acid uptake and protein synthesis in liver and muscle, and inhibiting lipolysis in adipose tissue. (msdmanuals.com)

Working with experts in protein chemistry, genetics, beta-lactamase biochemistry, cell wall synthesis, and medical microbiology - in Belgium, France, the United States, and Sweden - Jacobs-Wagner discovered a regulatory protein that can sense the peptidoglycans that accumulate when antibiotics disrupt cell wall synthesis, and then activate transcription of beta-lactamase, the enzyme that disarms the drugs. (the-scientist.com)
This paper reports that certain of these dipeptide repeat proteins interfere with protein synthesis in affected cells, and this molecular derailment may contribute to motor neuron degenetion in C9orf72-ALS patients. (europa.eu)
Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
tRNAs are essential for cells and their synthesis is under stringent cellular control. (cdc.gov)

Nature Cell Biology. (wikipedia.org)
Molecular Biology of the Cell. (wikipedia.org)
The results will be published online and are scheduled for publication in the May/June issue of the Journal of Cell Biology. (scienceblog.com)
Now there's a whole new field of people who are working on bacterial cell biology using the same sorts of approaches used to study eukaryotes. (the-scientist.com)
Journal of Cell Biology 2018, 217(11):3947-3964. (europa.eu)
It's extremely exciting that we've found a single protein that is responsible for these two functions - orientation and motility - in cilia," said Rebecca Burdine , an associate professor of molecular biology at Princeton University. (princeton.edu)

We wish to understand at a molecular level how specific eukaryotic proteins are selected for rapid degradation even while most proteins are spared. (yale.edu)
This ligase attaches ubiquitin to both nuclear regulatory proteins and to misfolded membrane proteins degraded at the ER (ER-associated degradation or ERAD). (yale.edu)
Targeted protein degradation offers the potential for rapid and dose-dependent protein depletion through the use of protein fusion tags toward which protein degraders have been established. (dana-farber.org)
In a recent article published in the Journal of Medicinal Chemistry, first author Radoslaw Nowak, PhD, and senior author Eric Fischer, PhD , present a newly developed protein degradation tag BRD4BD1L94V along with the corresponding cereblon (CRBN)-based heterobifunctional degrader based on a "bump-and-hole" approach. (dana-farber.org)
Recent evidence indicates that altered degradation rate of mutant proteins represents a pathogenic mechanism underlying genetic diseases. (frontiersin.org)
We first genetically engineered proteasome activators involved in either non-ubiquitinated protein degradation pathways (PA28ƒ×) or subunits of PA700, the 26S proteasome ubiquitinated pathway (S5a) into transducible lentiviral vectors. (science20.com)
We determined how to enhance UPS function and influence catalytic protein degradation and cell survival in HD. (science20.com)
The mutants lasted two to four times longer than wild-type TDP-43 does, suggesting they are more resistant to degradation. (alzforum.org)

Researchers generated the first human line of Huntington's disease induced pluripotent stem cells (iPSCs) that do not express the dysfunctional protein underlying the condition. (huntington.cl)
In this study, researchers generated both mouse and human Huntington's disease iPSCs with a stable silencing of the mutated HTT protein. (huntington.cl)
This way, they were able to investigate how a stable decrease of mutant HTT impacts other signaling pathways, focusing particularly on the factors previously reported as affected in Huntington's disease - the mitogen-activated protein kinase (MAPK), Wnt, and p53. (huntington.cl)
Researchers observed that in mouse Huntington's disease iPSC lines, the levels of HTT protein were inversely correlated with those of the p53 protein - the levels of p53 increased upon silencing the mutant HTT. (huntington.cl)
Scientists have created a tool for mopping up the clumps of mutant protein that drive neurodegeneration in Huntington's disease. (scienceblog.com)
Huntington's affects about 30,000 people in the United States and usually begins in young- to mid-adulthood with the slow destruction of brain cells, leading to involuntary movements, cognitive impairment and sometimes depression or paranoia. (scienceblog.com)
Li says scientists who work on Huntington's have been studying where inside the cell the clumps have their toxic effect: brain cells' nuclei or in their axons and dendrites. (scienceblog.com)
Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center - the nucleus - appear to be a direct cause of brain cell death in Huntington's disease, an inherited adult neurodegenerative disorder. (hopkinsmedicine.org)
Huntington's disease is a relatively rare fatal inherited condition that gradually kills off healthy nerve cells in the brain, leading to loss of language, thinking and reasoning abilities, memory, coordination and movement. (hopkinsmedicine.org)
Huntington's disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. (hdsa.org)
While much study has been devoted to genetic "triggers" of CNS neurodegeneration-notably mutant Htt in Huntington's disease (HD)-such inherited triggers are typically expressed from early fetal development and are fundamentally inaccessible to timely clinical intervention. (hdsa.org)

Much of our work is conducted in baker's yeast, a model organism ideal for genetic and biochemical analysis, but we also use human tissue culture cells and Drosophila in certain studies. (yale.edu)
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)
About a decade ago, Dr. Tiacci and his colleagues began to explore the genetic underpinnings of hairy cell leukemia. (cancer.gov)
Wutz, A. Haploid mouse embryonic stem cells: rapid genetic screening and germline transmission. (nature.com)
Genetic modification and screening in rat using haploid embryonic stem cells. (nature.com)
A new study of a protein found in cilia - the hair-like projections on the cell surface - may help explain how genetic defects in cilia play a role in developmental abnormalities, kidney disease and a number of other disorders. (princeton.edu)

2004) Akt phosphorylation and gefitinib efficacy in patients with advanced non-small-cell lung cancer. (scielo.br)
Therefore, the mutant Atm-S1987A protein exhibits normal phosphorylation activity and is sufficient to trigger an efficient response to radiation. (nih.gov)
Once ATM is recruited to the double-stranded DNA break, lots of other proteins also relocate to the same site for phosphorylation. (nih.gov)
The team identified a master regulator tyrosine kinase enzyme called FLT3, that initiates a series of biochemical phosphorylation events that results in the acetylation of IDH2, a modification that blocks its activity and decreases the amount of 2-HG in the cell, keeping the AML cancer cells from dying. (genengnews.com)

Overexpression of mitogen-activated protein kinase kinase (MAPKK) and its mutants in NIH 3T3 cells. (tau.ac.il)
Mitogen-activated protein kinase kinase (MAPKK) is a dual specificity protein kinase that exhibits a high degree of specificity toward its downstream target, mitogen-activated protein kinase (MAPK). (tau.ac.il)

ATP2A2, located on 12q23-24.1, encodes the sarcoplasmic/endoplasmic reticulum Ca 2+ -ATP isoform 2 protein (SERCA2), which is a calcium pump. (medscape.com)

Metz H, Busch SE, Hanke ML, Kargl J, Kim KH and Houghton M (2014) Insulin receptor substrate-1 regulates immune cell content in lung adenocarcinoma. (scielo.br)
When mutant DMPK is converted into RNA in a first step of protein production, the repeated sequences in the RNA cause it to bind to another protein, MBNL, which regulates RNA processing. (illinois.edu)
In the periphery, increases basal metabolism, regulates pancreatic beta-cell function and insulin secretion and affects innate and adaptive immunity. (prospecbio.com)
Regulator of G-protein signaling 5 regulates the shift from perivascular to parenchymal pericytes in the chronic phase after stroke. (lu.se)

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)
However, when the researchers performed the same experiments with the TDP-43 mutants Q331K and M337V, they found that much more FUS tagged along, suggesting the mutants have increased affinity for FUS, or a for complex that also contains FUS. (alzforum.org)

click on the small "i" buttons located within a cell for an annotation to view further details about experiment type and any other genes involved in the interaction. (yeastgenome.org)
A ) Quantification of T7E1 assay for editing efficiency in bulk transfected C2C12 cells with sgRNAs targeting the indicated mtFAS genes. (elifesciences.org)
We study genes, proteins and signaling pathways that might be essential for RGC and optic nerve development, function, survival, and regeneration. (nih.gov)
We are particularly interested in genes encoding olfactomedin domain-containing proteins. (nih.gov)
Several genes encoding olfactomedin domain-containing proteins are expressed in the eye. (nih.gov)
Mutant DMPK genes often continue to expand, amplifying the health problems that can result. (illinois.edu)
Using our recently established haploid human pluripotent stem cells (hPSCs), we generated a genome-wide loss-of-function library targeting 18,166 protein-coding genes to define the essential genes in hPSCs. (nature.com)
hPSC-enriched essential genes mainly encode transcription factors and proteins related to cell-cycle and DNA-repair, revealing that a quarter of the nuclear factors are essential for normal growth. (nature.com)
Fig. 2: Analysis of cell-essential genes. (nature.com)

These results suggest that PS1 proteins interact with the microtubule network, affect its organization and that this phenomenon, more marked for the PS1 mutants, might play a role in the cell dysfunction induced by mutant PS1 proteins. (ox.ac.uk)

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)
These solid, insoluble protein clumps damage the nerve cells. (unibas.ch)

HTT silencing resulted in moderate effects on Wnt and MAPK pathways in both mouse and human HD induced pluripotent stem cells. (huntington.cl)
The IRS proteins (IRS1-4) are the family of adaptors regulating metabolic and mitogenic signaling pathways ( Hanke and Mann , 2009 Hanke S and Mann M (2009) The phosphotyrosine interactome of the insulin receptor family and its substrates IRS-1 and IRS-2. (scielo.br)
Mucin 1 lies on the tubular cell apical surface and has a role in signal transduction pathways. (medscape.com)

ALS mice that either expressed 1 or 2 mutant SEMA3A alleles demonstrated no difference in ALS-induced decline in motor behavior. (nih.gov)
Consistently, decreased levels of OTUD3 are detected in transgenic PD mice expressing A53T mutant of human α-synuclein. (nature.com)
These mice express a catalytically inactive fusion protein of the NH 2 -terminal part of HDAC2 and β-galactosidase, which fails to integrate into corepressor complexes with mSin3B. (aacrjournals.org)
They are the first class 1 HDAC mutant mice that are viable although they are ∼25% smaller than their littermates. (aacrjournals.org)
Crossing of HDAC2-mutant with tumor-prone APC min mice revealed tumor rates that are lower in HDAC2-deficient mice by 10% to 100% depending on segment of the gut and sex of the mice. (aacrjournals.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)
Although enzyme mechanisms may differ between humans and mice, gaining a better understanding of DNA damage repair might someday allow us to specifically alter ATM in cancer cells. (nih.gov)
The research reported in Nature , led by Manuela Pellegrini, Ph.D., and Arkady Celeste, Ph.D., of NCI's Experimental Immunology Branch, shows that addition of a mutant version of the ATM protein (Atm-S1987A) that is unable to autophosphorylate can restore normal function to mice lacking ATM. (nih.gov)
Mice with the Atm-S1987A mutant protein appear normal and do not have the defects that are observed in mice without ATM. (nih.gov)
The researchers attribute the rescue of ATM-deficient mice to the ability of the Atm-S1987A mutant protein to function normally without autophosphorylation. (nih.gov)
None of these indicators of regular function can be detected in immune cells from mice lacking ATM. (nih.gov)
Generation of genetically modified mice by oocyte injection of androgenetic haploid embryonic stem cells. (nature.com)
Androgenetic haploid embryonic stem cells produce live transgenic mice. (nature.com)

Many tumor cell lines and experimental tumors respond to HDAC inhibition. (aacrjournals.org)
They also show that ECD cleavage is caused by matrix metalloproteinase 9 (MMP-9), whose inhibition leads to decreased NB cell migration. (dana-farber.org)
Antibody recognition of the mutant proteins was determined by inhibition ELISA. (cdc.gov)

Mutant presenilin 1 proteins induce cell death and reduce tau-dependent processes outgrowth. (ox.ac.uk)

They were able to identify two sequences in vasopressin, which in the mutant protein drive the formation of harmful amyloids. (unibas.ch)

First, we wish to understand, at a mechanistic and molecular level, how specific proteins are rapidly degraded within eukaryotic cells while most proteins are spared. (yale.edu)

The K97A and S222A mutants served as dominant negatives by suppressing MAPKK, MAPK, and p90(rsk) activation in vivo. (tau.ac.il)
The Ubl called SUMO is attached to many proteins in vivo and is crucial for cell-cycle progression. (yale.edu)

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. (nih.gov)

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. (nih.gov)
However, at high concentrations 2-HG it becomes toxic, killing cancer cells. (genengnews.com)
For example, the cell translates the mutant RNA into proteins that also turn out to be toxic. (illinois.edu)
We have established a method allowing to study the cell-specific secretome of pericytes in vitro-using Turbo-ID, a mutant non-toxic biotin ligase (6). (lu.se)

Before forming such filaments, proteins undergo an intermediate stage, the oligomers, which are also present in the brains of Parkinson's patients. (sciencedaily.com)
Both WT and mutant proteins undergo ECD cleavage. (dana-farber.org)
They undergo activation, morphological changes and express a protein called Regulator of G-protein Signaling 5 (RGS5) (1, 2). (lu.se)

To investigate the role of the cAMP-dependent protein kinase (PKA) in the desensitization and down-regulation of the D 1 dopamine receptor, we stably expressed the rat cDNA for this receptor in mutant Chinese hamster ovary (CHO) cell lines deficient in PKA activity. (aspetjournals.org)
G ) Control (GFP) or Oxsm mutant (OxsmΔ) cells were stably infected with shRNA targeting FASN (shFASN) or control (shScramble) then incubated with U 13 C-glucose for one doubling were harvested, lipids extracted and saponified, and analyzed via FAMES analysis. (elifesciences.org)
He used stably transfected HeLa cells to express a single copy of each transgene, in the same locus in each case, controlle by the inducible Tet operator and drive by a cytomegalovirus promoter. (alzforum.org)

Normal IDH proteins play a key role in the production of energy from the breakdown of molecules in food. (genengnews.com)
Chemical rescue of mutant proteins in living Saccharomyces cerevisiae cells by naturally occurring small molecules. (yeastgenome.org)
Small molecules are much easier to make than larger compounds, they are easier to get into cells and their potential for getting into the brain is higher," he said. (illinois.edu)

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)

HA-M 30 is shown (i) to bind mainly to membrane fractions, (ii) not to co-precipitate M wt , as HA-M wt does, (iii) to interfere with the binding of nucleocapsids to membranes and (iv) to accumulate in perinuclear regions, in contrast to HA-M wt , which is also found at the cell periphery. (microbiologyresearch.org)
The second study, posted online in the Journal of Biological Chemistry on June 16, suggests one possible mechanism by which TDP-43 might bind other proteins. (alzforum.org)
Two, they bind to the mutant RNA and prevent it from attaching to the regulatory protein, MBNL. (illinois.edu)

Similarly, treatment of the cells with the membrane-permeable cAMP analog 8-(4-chlorophenylthio)-cAMP induced functional desensitization and down-regulation of the D 1 receptor, although it was not as great as that observed with agonist pretreatment. (aspetjournals.org)
Transient receptor potential melastatin member 4 (TRPM4), a non-selective cation channel, mediates cell membrane depolarization in immune response, insulin secretion, neurological disorders, and cancer. (frontiersin.org)
At negative membrane potentials, TRPM4 allows Na + entry into the cell, leading to cellular membrane depolarization. (frontiersin.org)

Research has shown that when DNA damage occurs, a key enzyme - called ataxia telangiectasia mutated protein, or ATM - becomes activated. (nih.gov)
They found that cancer cells modify the mutant IDH2 enzyme through acetylation at a lysine residue that prevents the enzyme from coupling to form a dimer. (genengnews.com)
People knew there was a connection between enzyme induction and cell wall breakdown," he says. (the-scientist.com)
Author Manuscript and RNA repair protein AlkB-derived enzyme mixture was first used to remove methylations at the Watson-Crick face. (cdc.gov)

In fact, "studies in induced pluripotent stem cells in Huntington disease models have demonstrated that multiple molecular processes are altered by the mutant HTT protein and suggested its silencing as a promising therapeutic strategy," researchers wrote. (huntington.cl)
The researchers also found evidence of which protein species are important for the amyloid filaments growth. (sciencedaily.com)
Researchers are also exploring similar drug combinations as treatments for hairy cell leukemia, Dr. Kreitman noted. (cancer.gov)
How cancer cells accomplish this feat has been unknown until now and was the focus for a team of researchers including scientists from the University of Chicago, Emory University School of Medicine, Memorial Sloan Kettering Cancer Center, Beckman Research Institute of City of Hope, and Yale University School of Medicine. (genengnews.com)
In PNAS online this week, researchers report that TDP-43 mutants last longer in the cell than the wild type protein, and are more likely to hook up with FUS, another protein involved in ALS. (alzforum.org)
However, the researchers did not expect the second set of proteins attached to TDP-43: elements of the Drosha microprocessing complex that refines microRNA (miRNA). (alzforum.org)
But the disease has other means of creating havoc in cells, researchers have since found. (illinois.edu)
The most potent compounds the researchers developed reduce levels of the mutant RNA in cells that replicate the pathology of DM1. (illinois.edu)
The researchers at Princeton University and Northwestern University found that the protein, which goes by the name C21orf59 or "Kurly," is needed for cilia to undulate to keep fluid moving over the surface of cells. (princeton.edu)
In the zebrafish kidney, the researchers found that the Kurly protein enabled cilia to orient themselves in a uniform direction, and most importantly, in the proper direction to facilitate the flow of fluid along the narrow channels in the kidney. (princeton.edu)
Researchers in Burdine's laboratory found that Kurly's role in cilia movement stems from its ability to ensure proteins called dynein arms are correctly located in the cilia. (princeton.edu)

Such turnover occurs primarily through the ubiquitin-proteasome system and is central to a variety of cell regulatory mechanisms, many of medical relevance including many cancers. (yale.edu)
The prototypical example of such a protein modifier is ubiquitin, but at least a dozen such systems exist. (yale.edu)
While ubiquitin is commonly used to mark its targets for destruction, the consequences of protein ligation to the various "ubiquitin-like proteins" are less understood. (yale.edu)
Our lab has as its general focus one of the fundamental regulatory systems of eukaryotic cells - the ubiquitin system. (yale.edu)
The ubiquitin system has only recently come under close scrutiny, and an extraordinary array of cell regulatory functions is gradually being uncovered. (yale.edu)
The prototypical example of a protein that is covalently attached to other proteins is ubiquitin, but in recent years, evidence for at least a dozen such systems has come to light. (yale.edu)
One cellular organelle with a central role of clearing such protein build up in the cell is the ubiquitin proteasome system (UPS). (science20.com)

Antisense Rna Efficiently Inhibits Formation of the 10 Kd Polypeptide of Photosystem-Ii in Transgenic Potato Plants - Analysis of the Role of the 10 Kd Protein. (mpg.de)

The neurovascular unit (NVU) contains endothelial cells joined by tight junctions that shield the brain from the blood via the blood brain barrier (BBB). (lu.se)
They are required to support the endothelial cells and to maintain the BBB together with endothelial cells and astrocytes. (lu.se)
Human brain vascular pericytes treated with either scrambled or RGS5 targeting siRNA, will be co-cultured in a spheroid model of the BBB together with human brain endothelial cells and human astrocytes. (lu.se)

The 10248 mutant CHO line lacks type II PKA activity and expresses a defective type I PKA. (aspetjournals.org)

For the work described in PNAS, first author Shuo-Chien Ling, in the laboratory of Don Cleveland at the University of California in San Diego, led the effort to distinguish the actions of wild-type and mutant TDP-43. (alzforum.org)
This paper is one of the first to show real differences between wild-type and mutant TDP-43, said Robert Baloh, Washington University School of Medicine in St. Louis, Missouri. (alzforum.org)

The addition of phosphate groups is a common mechanism used by cells to turn enzymes on and off. (nih.gov)
Scientists have discovered a new mechanism by which cancerous cells in acute myeloid leukemia (AML) regulate the protein IDH2 (isocitrate dehydrogenase2) known to be mutated in cancer, to increase the buildup of cancer cells in the blood. (genengnews.com)

But finding a regulatory protein that directly interacts with one of the breakdown products - that was unprecedented and really quite exciting. (the-scientist.com)

While the contribution of these mechanisms to cell and tissue identity is widely accepted, their role in physiological and pathological contexts within tissues is just beginning to be appreciated. (imperial.ac.uk)
Blueprint backed Ayvakit's supplemental NDA with data from the PIONEER trial , which found that the drug significantly and rapidly reduced all main measures of pathological mast cell compared to placebo. (biospace.com)
We determined how this intervention altered cell survival after exposure to toxins known to simulate pathological mechanisms in HD. (science20.com)

Go to Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma for more complete information on these topics. (medscape.com)

The transfected parental and mutant cell lines were found to express ∼1 pmol/mg D 1 receptor binding activity ( B max ) as determined using [ 3 H]SCH-23390 binding assays. (aspetjournals.org)
Sendai virus M protein is found in two distinct isoforms defined by monoclonal antibodies. (microbiologyresearch.org)
The mutant protein sends out signals that speed the growth of the cancer cells, they found. (cancer.gov)
Mutant forms of IDH proteins found in AML cells, take on an extra function of making a cancer-causing molecule called 2-HG (2-hydroxyglutarate). (genengnews.com)
We found that myocilin is expressed in bone marrow-derived mesenchymal stem cells (MSCs) and affects their differentiation into osteoblasts. (nih.gov)
They also found that the protein is needed during development to properly orient the cilia so that they are facing the right direction to move the fluid. (princeton.edu)
This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. (medlineplus.gov)
We first sought to assess biofilm formation and structure in these fks1 mutants and found that the biofilm mass and metabolic activities were reduced in most of the fks1 mutants as compared with reference strain SC5314. (who.int)

So in December 1996, she joined the lab of Lucy Shapiro at Stanford University, where she spent four productive years exploring how Caulobacter coordinates its developmental program with cell-cycle progression. (the-scientist.com)

Our results suggest that PKA significantly contributes to the desensitization and down-regulation of D 1 receptors in CHO cells and that type II PKA may be the more relevant isoform with respect to regulating D 1 receptor function. (aspetjournals.org)
In our second major area of research, we are analyzing the function and dynamics of protein modification by other Ubls. (yale.edu)
Histone deacetylases (HDAC) reverse the acetylation of histone and nonhistone proteins and thereby modulate chromatin structure and function of nonhistone proteins. (aacrjournals.org)
The IRS proteins function as adaptors and transmit signals from multiple receptors. (scielo.br)
To function, each living cell needs both to build new and to degrade old or damaged proteins. (science20.com)
Following compromise of the UPS, the overexpression of proteasome activator PA28 can specifically recover proteasome function and improve cell viability in both HD model and patient cells. (science20.com)
Following compromise of the UPS, overexpression of the proteasome activator subunit PA28γ, but not subunit S5a, recovered proteasome function in the HD cells. (science20.com)
which encodes a proline-rich transmembrane protein of still unknown function. (frontiersin.org)
To study function of these proteins we also use zebrafish as a model system. (nih.gov)
Huntingtin (Htt) is a multi-function protein of the brain. (benthamscience.com)
When bound by the mutant RNA, MBNL cannot function properly, causing a cascade of problems in protein production, Zimmerman said. (illinois.edu)
And the mutant RNA interferes with the function of other proteins besides MBNL. (illinois.edu)
[ 7 ] Thus, diverse biochemical mechanisms are responsible for altered protein function. (medscape.com)
Sweden ties must be important for protein function. (lu.se)

Reversible acetylation of histone proteins is considered to affect local structure of chromatin. (aacrjournals.org)
The study is published in an article in the journal Molecular Cell , titled, "Lysine acetylation restricts mutant IDH2 activity to optimize transformation in AML cells . (genengnews.com)

ATM is a protein that functions to maintain the stability of DNA. (nih.gov)

More generally, we study the reversible enzymatic coupling of proteins to other proteins within cells. (yale.edu)

This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. (medlineplus.gov)

An evaluation of the self-assembly enhancing properties of cell-derived hexameric amyloid-β. (uclouvain.be)
Overexpression of wild-type human amyloid precursor protein alters GABAergic transmission. (uclouvain.be)
Vasopressin is stored in the cell in the form of amyloid-like granules. (unibas.ch)

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)

Mutant embryonic fibroblasts fail to respond to insulin-like growth factor I (IGF) by the IGF-I-induced increase in cell number observed in wild-type cells. (aacrjournals.org)

E-F ) Stable cell lines created in ( D ) were incubated with U 13 C-glucose for the indicated number of doublings, harvested, lipids extracted, and analyzed via LC-MS. Shown are quantitation of m+2 isotopologues for two representative phospholipid species, PC 16:0_16:0 and PC 16:0_18:0. (elifesciences.org)

However, the mutant PS1 proteins increased the proportion of insoluble tau in the cytoskeletal fraction and they were concentrated in the same fraction. (ox.ac.uk)

Mol Cell Biol 2001(16): 5566-76 [ PubMed abstract ]. (lu.se)

Iron regulatory protein 2 (IRP2) is a key factor in regulating brain iron homeostasis. (nature.com)
We also elucidated the distinct regulatory mechanisms for the protein variants, mutant IDH1, and mutant IDH2, in AML. (genengnews.com)

Memory SARS-CoV-2-specific CD8 + T cell responses induced upon infection or COVID-19 vaccination have been important for protecting against severe COVID-19 disease while being largely robust against variants of concern (VOCs) observed so far. (mdpi.com)
In consequence, protein turnover of WT-TRPM4 and TRPM4 variants overexpressed in HEK293 cells was analyzed using cycloheximide, an inhibitor of protein biosynthesis. (frontiersin.org)

This thorough understanding of AML driven by IDH mutant proteins allows us to better understand the mechanisms of action of AML-targeted therapies. (genengnews.com)
Her pioneering studies on the molecular mechanisms underlying cell shape and cell polarity in Caulobacter crescentus , says Errington, "have helped change the way people think about bacteria. (the-scientist.com)

The acetylcholine receptor is the receptor that is required for muscle cells to receive signals from the motor nerve. (europa.eu)

Anatomy20

Organisms16

Diseases2

Chemicals and Drugs105

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Phenomena and Processes88

Information Science4

Health Care3

Aggregates18

Gene31

Intracellular10

Proliferation7

Mutation10

Peptides1

Aggregation4

Abnormal10

Mutations9

Huntingtin protein6

Neuronal5

Neurons10

Expression12

Binds4

Cytoplasm6

Amino acid4

Synthesis4

Biology6

Degradation8

Huntington's11

Genetic6

Phosphorylation4

Mitogen-activa2

SERCA21

Regulates4

Affinity2

Genes9

Dysfunction1

Clumps2

Pathways3

Mice14

Inhibition3

Induce1

Sequences1

Specific proteins1

Vivo2

Nuclear proteins1

Toxic4

Undergo3

Stably3

Molecules3

Antibody1

Bind3

Membrane3

Enzyme4

Researchers11

Ubiquitin7

Transgenic1

Endothelial Cells3

Defective1

Wild-type and mutant2

Mechanism2

Interacts1

Pathological3

Clear cell renal cell carc1

Found8

Developmental1

Function14

Acetylation2

Functions1

Reversible1

Secretion1

Amyloid3

Interfere1

Fibroblasts1

Lipids1

Insoluble1

Abstract1

Regulatory2

Variants2

Mechanisms2

Signals1