Articles tagged with Mutant Proteins
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Researchers discovered that the human protein APOBEC3G transforms its function from editing viral DNA to blocking HIV-1 replication when it forms a two-protein complex. This finding has implications for developing new anti-HIV drugs.
Researchers discovered a previously unknown region of antithrombin protein plays a crucial role in preventing blood clots. This finding could lead to better-designed drugs for other blood disorders and improved treatments for patients with antithrombin deficiency.
Researchers discovered over 800 alternative ways evolution could have led to the protein's new function, highlighting chance mutations' role. The study reveals how idiosyncratic evolution unfolded, with many possible mutations occurring before reaching the historical solution.
Scientists at the Salk Institute have discovered an errant protein process in a rare genetic disorder that could help healthy people live longer. The study found rapid protein turnover and enlarged nucleoli in progeria cells, which may serve as biomarkers for aging.
Researchers have discovered that self-assembling protein complexes can form long, stiff filaments through a single mutation. This phenomenon has implications for both biological research and nanoscience, as it may indicate that Lego-like assemblies are more common than previously thought.
A team of researchers has discovered a fundamental pathology behind amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, identifying the basic cellular malfunction underlying the diseases. The study found that an abnormal version of a protein called TIA1 causes phase separation in cells, leading to neuron death.
A team of researchers has discovered how mutated proteins in a protein network drive several high-risk leukemias. The study suggests that an existing drug, ruxolitinib, may be repurposed to treat these leukemias and offers clues for developing novel drugs using precision medicine.
Researchers found that traffic jams in the nucleus kill brain cells in Huntington's disease. Drugs clearing up these disruptions restored normal transport and saved cells.
Scientists have discovered thousands of rare genetic mutations contributing to cancer growth, focusing on shared protein domains. These findings could guide the development of treatments targeting multiple mutated proteins simultaneously.
Researchers have determined the three-dimensional structure of the human protein responsible for cystic fibrosis. The study reveals similarities with its zebrafish counterpart, allowing for a deeper understanding of how the protein functions normally and leads to the disease.
Researchers have discovered a genetic mutation in the PLC-zeta protein that causes male infertility, but found that injecting more of this protein can restart fertilization. The study suggests that this form of infertility could be treated in the future.
A study published in JCI reveals that mutant HTT protein and DISC1 form a complex that compromises its functions, leading to disruptions in downstream pathways. Normalizing the activity of this protein complex improves cognitive symptoms in HD mice, providing insights into DISC1's role in mental illness.
Researchers discovered that breast cancer cells trigger the self-destruction of mutated BRCA1 proteins through ubiquitination, resulting in compromised tumor suppressor function. This process can be targeted for potential therapeutic treatment.
HSP90 plays a protective role on mutant proteins, buffering detrimental effects of mutations it carries. Environmental changes can also provoke major effects in cells expressing HSP90-buffered mutants.
Researchers discovered a single mutation, T198F, that increases accessibility of a hidden protein region to antibodies, reducing West Nile virus infectivity and disease severity. This finding may pave the way for new vaccines and antiviral drugs.
Researchers identified a mutation in UNC13 protein associated with autism spectrum disorder, hyperactivity, and dyskinesia. The mutation disturbed fine-tuning of neuronal communication, leading to enhanced synaptic strength and increased neurotransmission.
Scientists have detailed the structure of TREM2, a molecule implicated in Alzheimer's and other neurodegenerative diseases. The study shows that certain mutations alter the surface or internal structure of TREM2, leading to impaired function and neurodegeneration.
Researchers at Duke University have identified a common mechanism underlying separate forms of dystonia, a brain disorder causing involuntary movements. A new cell-based screening test has been developed to identify new drug candidates, leveraging the misplacement of the DYT1 protein near the nucleus.
A debilitating neurological disease in children has been linked to mutations in the DENND5A gene, which regulates neuronal development through control of protein movement within neuronal cells. The study found that recessive loss-of-function mutations in DENND5A cause severe mental and physical disabilities.
Researchers successfully created a catalyst that efficiently forms carbon-silicon bonds, which were previously thought impossible. The breakthrough enables the production of a wide range of silicon products.
A team of scientists has isolated a mutated prion protein that can multiply in the lab but not in living animals. The mutant scrapie prion lacks a crucial stretch of amino acids necessary for animal infection, providing new insights into the mechanisms behind prion infectiousness.
A random mutation in a single-celled organism created a new family of proteins that are essential for the evolution of animals. The mutation altered the protein's flexibility, allowing it to advance to a new function and play a key role in multicellular life.
Researchers discovered damage to RNA-binding protein hnRNP A2/B1 contributes to ALS by scrambling cellular messaging systems. The study provides a new therapeutic target for treating the disease.
Scientists have discovered unique genome variants linked to cancer development, which can be used to detect weaknesses in tumor cells. The new approach uses proteogenomics and mass spectrometry data to identify variant peptides, providing valuable information for gene annotation and potential drug targets.
Researchers have found that specific mutations in Parkinson's disease protein alpha-synuclein can dramatically affect microscopic processes leading to the condition's onset. The study suggests these tiny changes influence fibril formation and secondary nucleation, potentially contributing to the disease's development.
Scientists have discovered how ALS-linked protein mutations affect TDP-43's normal function, causing it to aggregate and lead to disease. The study found that specific regions of the protein play a crucial role in its concentration and processing.
Researchers at the National Institutes of Health have identified a novel genetic mutation that may lead to progressive loss of motor function in children. The study, published in Science Signaling, found that a gain-of-function mutation in the KCC3 protein causes extreme swelling of neurons, leading to nerve damage and muscle weakness.
Scientists have developed a new technique to selectively block the disease-causing protein in mice with spinocerbellar ataxia type 6 (SCA6). The method uses a modified virus to deliver micro RNA that prevents SCA6 from developing, offering a potential treatment for other diseases caused by mutations in bicistronic genes.
Researchers have developed a bioinformatics tool that can analyze 40,000 proteins per minute to predict the effect of cancer-associated mutations. The tool combines protein sequences, functional motifs, and cancer mutations to identify potential targets for studying disease development.
Scientists at Washington University School of Medicine identified over 850 DNA mutations linked to cancer that may be responsive to existing drugs. The study provides a list of mutations and associated drugs that could benefit patients, expanding the number of cancer treatments available.
Researchers at IRB Barcelona have identified a molecular system of protection that involves the androgen receptor protein in Kennedy's disease. The study suggests that targeting specific regions of the protein may lead to new therapeutic targets for the condition.
Researchers at Georgia State University discover the molecular basis of human diseases resulting from CaSR mutations, potentially leading to new therapies for hypocalcemia and Alzheimer's disease. The study also identifies a small molecule as a lead compound for CaSR regulators.
A recent study published in PLOS Pathogens identifies a host gene involved in the formation of Hepatitis C virus particles. The gene, ABHD5, regulates the efficiency of virus assembly and release from human host cells. High levels of ABHD5 expression lead to fewer lipid droplets, while lower levels result in their accumulation.
Researchers at University of California, Irvine, have found a way to reduce the aberrant accumulation of the mutant Huntingtin protein in Huntington's disease. By targeting and modulating levels of PIAS1, they showed improvement in symptoms and neuroinflammation in HD mice.
Researchers at Osaka University have clarified the involvement of AGT1 in renal reabsorption of cystine. They found that complexes of AGT1 and rBAT transport cystine and acidic amino acids, identifying a second cystine transporter in proximal tubules.
Researchers discovered that lymphoma cells break through four 'locks' on the CARD11 protein, a key component of the immune system. The protein has four redundant repressive elements that normally keep it in check, but mutations in certain regions can disable these locks and lead to cancer.
Scientists at VIB discover that mutations at specific positions can suppress protein aggregation, increasing solubility. This breakthrough could enable the production of protein drugs and enzymes with improved stability and functionality.
New research from Uppsala University shows that organisms can quickly compensate for the negative effects of synonymous mutations by introducing new mutations. This study provides insights into why these mutations are detrimental to bacterial growth and survival.
The study reveals the core of protein clumps found in Huntington's brains has a distinctive structure, which may lead to new therapies. The findings provide crucial insights into how proteins undergo misfolding and aggregation, shedding light on neurodegenerative diseases.
The St. Jude Children's Research Hospital has developed ProteinPaint, a web application and dataset that provides an interactive tool for researchers worldwide to advance their understanding of pediatric cancer mutations. The tool offers critical information unavailable with existing visualization tools, allowing users to see the impac...
Researchers at Kobe University and AIST in Japan developed a technology to select high-affinity proteins that bind with membrane proteins, a key feature in controlling physiological functions. This discovery has potential applications in the development of new biopharmaceuticals for various drug targets, including cancer treatment.
Researchers at TSRI identified a mutant protein's incorrect interactions with other cellular neighbors, which disrupted its normal function. By removing these interactions, they partially restored the protein's normal function, suggesting new therapeutic targets to treat cystic fibrosis.
UF Health researchers have discovered four novel proteins that contribute to Huntington's disease by accumulating in the brain and killing neurons. The proteins, known as RAN proteins, are made without a signal in the genetic code and build up as aggregated clusters that lead to cell death.
Researchers have developed new compounds that target three ways to interrupt the disease's pathology in cells, showing promise against myotonic dystrophy type 1. The compounds reduce levels of mutant RNA and reverse symptoms in a fruit fly model.
Biologists at SDSU discovered that fruit flies with two muscle protein mutations have nearly three-quarters of the myosin protein function restored, compared to those with a single mutation. This finding suggests a new view of human heart disease and potential treatments.
Researchers discovered rapamycin prevents Parkinson's disease by boosting cellular clean-up via up-regulation of a protein called TFEB, increasing lysosomal autophagy and mitochondrial biogenesis. This breakthrough challenges current dogma and presents new opportunities for drug discovery.
Researchers identified lanosterol as a key molecule in preventing lens protein aggregation, a major factor in cataract formation. Treatment with lanosterol significantly decreased preformed protein aggregates and reduced cataract severity in animal models.
A genetic mutation in the PLVAP gene has been identified as a cause of severe protein losing enteropathy in infants, leading to abdominal swelling, malnutrition and early death. The study's findings offer hope for targeted correction through gene therapy.
A new study has uncovered a key factor in the variability of genetic disease severity, enabling prediction and personalized treatment approaches. By analyzing genetic background, researchers can now estimate disease severity, providing hope for improved management and therapy development.
Researchers at Simon Fraser University have found that changes in body temperature can cause arrhythmia, leading to sudden cardiac death. The study, published in the Journal of Physiology, identifies a protein sensitive to temperature fluctuations that can disrupt heart function.
Scientists develop synthetic prions to study prion disease, demonstrating similarity with natural disease-causing prions. The researchers also explore the transmission capabilities of human prion mutations in mice, revealing the importance of expressing mutant human PrP for infection.
Researchers identified a gene variant outside the huntingtin gene that affects disease onset timing. The variant delays symptoms when on the normal protein copy, while accelerating them on the mutated protein copy.
A study published in Nature Communications reveals that the protein dDsk2, a ubiquitin receptor, plays a key role in regulating gene expression. This discovery opens up new avenues for understanding the link between dDsk2 and neurodegenerative diseases such as Alzheimer's and Huntington's.
A team of scientists discovered CRMP1, a protein that acts as a 'chaperone' to prevent misfolding of the toxic huntingtin protein. In healthy brains and tissues, CRMP1 is present in higher amounts than in those affected by Huntington's disease.
A new ultra-sensitive test can detect mutant huntingtin protein in the cerebrospinal fluid of HD patients, predicting disease severity. The test has the potential to guide clinical decisions and monitor treatment efficacy.
A new study has identified protein modification needed to treat IBMPFD, a rare and deadly genetic disorder. The researchers found that changing the p47 protein could lead to proper cellular functions in cells with mutated p97, opening the door for potential treatments or prevention.
A computational tool, dSysMap, has been developed to interpret the effect of genetic mutations on the development of complex diseases. The tool positions over 23,000 documented genetic mutations on a map of known interactions between human proteins.
Researchers at UCSD have identified a specific region of the alpha-synuclein protein where mutations can lead to the creation of ring oligomers, causing cell death. This discovery could lead to the development of compounds that target this region to prevent or treat Parkinson's disease.
A new study reveals that a genetic mutation in the MYBPC3 gene causes cardiac dysfunction and is responsible for up to 8% of deaths among South Asians. The mutation affects the protein that controls heart muscle contractions, leading to toxic effects on the cell.
Researchers at the Technical University of Munich have discovered that broccoli's sulforaphane can reduce progerin accumulation and DNA damage in HGPS cells. The study suggests that this natural compound could be a potential therapeutic approach for treating the disease.