Articles tagged with Mutant Proteins
Scientists at St. Jude Children's Research Hospital have elucidated the structural mechanism of URAT1, a protein linked to gout, using cryo-electron microscopy. The findings reveal how URAT1 transports urate and offer new insights for developing more effective treatments for gout.
Researchers at UCSF develop a method to target GTPases, enzymes involved in Parkinson's and many other diseases, by using drugs targeting the K-Ras oncogene. This approach reveals new drug binding sites that could not be predicted by computational tools.
A study by researchers from Brazil and Germany found that a surface protein on Aspergillus fumigatus spores suppresses the release of pro-inflammatory substances by immune cells, making it easier for the fungus to infect the body. The enzyme glycosylasparaginase plays a crucial role in this process.
Researchers used AlphaFold2 to predict structural effects of mutations on protein stability, finding correlations between small structural changes and stability changes. This breakthrough opens up new possibilities for protein engineering, enabling scientists to design proteins with specific functions more effectively.
Researchers have developed a highly sensitive mass spectrometry-based method to detect mutation-derived tumor neoepitopes, which are recognized by the immune system. The new protocol enables the detection of low-abundance peptides in minimal tissue samples, paving the way for personalized cancer immunotherapies.
Researchers have identified two proteins, PARP1 and histone H1.2, that interact with an ALS-causing mutant FUS protein, leading to pathological changes. Inhibiting these proteins may be a possible therapeutic target for familial ALS cases caused by mutations in the FUS gene.
A new study from the Cusack group sheds light on how avian influenza virus can mutate to replicate in mammalian cells. The key enzyme polymerase must adapt to overcome two main barriers: entering and replicating within host cells, as well as acquiring human transmission capabilities.
A study by Florida Atlantic University researchers has identified novel players in dopamine signaling using Caenorhabditis elegans. They found that mutations in the BBSome protein complex, which regulates transport and signaling in cells, can lead to rare genetic disorders like Bardet-Biedl Syndrome.
A new treatment targeting two tumor-feeding genes is being tested to treat non-small cell lung cancer. The therapy, called PEPD-G278D, breaks down genetic mutations that contribute to drug resistance, showing strong suppression of NSCLC cell function and tumors.
Researchers have discovered a protein function that could guide novel cancer treatment options and improve diagnostic procedures for various cancers. The tumour-suppressing protein p16 has the ability to dramatically alter its structure and function, with potential implications for cancer formation and therapy response.
Researchers found that a tiny deletion in the titin protein causes developmental defects in embryonic ventricles, leading to increased potassium ion current and abnormal ANP expression. This remodeling leads to impaired atrial contractility and an increased risk of adult atrial fibrillation.
LMU researchers have developed strategies to repair mutated proteins that cause an inherited stroke disorder called CARASIL. The team used a combination of in-vitro and in-vivo methods to restore the function of the protease HTRA1, which plays a crucial role in maintaining equilibrium in the extracellular matrix.
Researchers developed an innovative gene-writing technology based on R2 retrotransposons, enabling efficient and precise targeted gene integration in human cells. The en-R2Tg system achieves high gene integration specificity at the 28S rDNA safe harbor site, reducing mutagenesis risks.
DeepEvo uses deep learning and evolutionary biology to engineer proteins for desirable traits. The approach achieved a promising success rate of over 26% in engineering high-temperature tolerance in an enzyme, paving the way for efficient protein customization.
Researchers at Colorado State University used human stem cells to study synaptic connections in the brain, focusing on GABAergic synapses. They found that Gephyrin promotes autonomous assembly of these synapses, which can develop independently of neuronal communication. This understanding could lead to new treatments for neurological d...
Researchers explore Extracellular signal-regulated kinase 5 (Erk5) and its unique structures regulating autophosphorylation and transcription. Erk5 is involved in angiogenesis, neurogenesis, energy metabolism, tumor growth, and metastasis, making it a potential target for cancer treatment.
Researchers have developed a novel pipeline to study proteins with no fixed structures, using cell-free protein crystallization techniques. This approach enables fast and convenient analysis of intrinsically disordered proteins, paving the way for new drugs and bioanalytical techniques.
Researchers discovered that biochemical bonds between fats and proteins in the mitochondrion play a crucial role in cellular energy production. Introducing mutations into a specific protein-lipid interaction weakened its structure and lowered its function.
A new study found that combining histone deacetylase inhibitors, poly (ADP ribose) polymerase inhibitors, and decitabine resulted in synergistic cytotoxicity in all cell lines tested. This combination impaired DNA repair pathways and altered epigenetic regulation of gene expression.
Researchers found that Werner syndrome mice experience age-dependent and sex-specific changes in their livers and immune systems, including fatty liver accumulation and altered lipid metabolism. These findings suggest a potential link between immunoglobulin variants and fatty liver progression in the disorder.
A team of researchers from Xi'an Jiaotong-Liverpool University has engineered a short sequence of artificial DNA to target the mutant protein p53-R175H, linked to lung, colorectal, and breast cancers. The new molecule, dp53m, inhibits cancer cell growth and increases sensitivity to chemotherapy agent cisplatin.
The study reveals that FLVCR1 and FLVCR2 transport choline and ethanolamine across cellular membranes, supporting cell growth and stability. This discovery contributes to understanding rare diseases and developing new therapies for patients suffering from severe neurological and muscular disorders.
Scientists have discovered the transporters responsible for delivering essential nutrients choline and ethanolamine to human cells. The study sheds light on the atomic structure of these transporters and their role in distributing micronutrients throughout the body, providing a foundation for new therapeutic approaches.
A team of researchers developed a hybrid nanotube stamp system for intracellular protein delivery, achieving high efficiency and cell viability rates in cancer treatment. The system successfully delivered therapeutic proteins into target cells with precision, showing promising efficacy and safety.
Researchers investigated molecular changes in aging mouse sweat glands, finding 171 mRNAs enriched in secretory cells. Altered mRNA and protein abundance were associated with age-related declines in sweat gland function.
Researchers discuss therapeutic opportunities for hypermutated urothelial carcinomas that are resistant to immunotherapy, including the potential of targeted therapies. High TMB is associated with defects in mismatch repair proteins and can lead to increased sensitivity to cancer treatments.
Researchers at UC Riverside demonstrate a new vaccine strategy targeting a common viral genome part, eliminating the need for annual booster shots. The vaccine uses small RNA molecules to boost the immune system, making it safe for babies and those with weakened immunity.
Researchers identified a gene mutation associated with impaired natural killer cell function, leading to increased susceptibility to viral infections in people with a rare genetic condition. Oleic acid supplementation shows promise as a potential therapy for these patients.
Researchers develop a computational approach to predict mutations leading to better proteins, with potential applications in neuroscience research and gene therapy. The technique uses a convolutional neural network to create a fitness landscape, enabling faster optimization of proteins.
A team of researchers from Tokyo Institute of Technology identified the molecular mechanisms involved in synaptic communication using Drosophila. They found that Side-IV/Beat-IIb immunoglobulin superfamily protein molecules play a crucial role in inducing synapse formation and regulating preferential signaling among neuron pairs.
The study found that crowding and salt enhance the aggregation of alpha-synuclein, while also stabilizing the resulting aggregates. The simulations revealed that certain amino acids exist to prevent aggregation and that proteins orient themselves to minimize interactions between these residues.
Researchers discovered that MEIS2 plays a critical role in activating genes necessary for the formation of inhibitory projection neurons, vital for motion control and decision-making. A MEIS2 mutation found in patients with intellectual disability disrupts these processes.
A new study has identified a crucial role for plant MLKL proteins in regulating cytoplasmic calcium ion concentration, which is responsible for innate immune responses. The research found that activated plant MLKLs maintain higher calcium levels, activating downstream immune machinery and conferring disease resistance.
Scientists discovered an immune cell protein that can target and destroy fibrolamellar carcinoma, a rare liver cancer with a poor prognosis. T-cell therapy may effectively treat the disease by recognizing the fusion protein, providing a novel approach for FLC treatment.
Researchers at MIT and University of Helsinki discovered a protein in human sweat that can protect against Lyme disease. A genetic variant of this protein is associated with increased susceptibility to the disease.
Researchers have discovered that PR55α, a regulatory subunit of PP2A phosphatase, inhibits p16 expression and blocks cellular senescence induction by γ-irradiation. This finding provides a new insight into the regulation of the p16/RB pathway in response to stressors.
Researchers used single-cell RNA sequencing to analyze the effects of APC treatment on AD transgenic mice, revealing alterations in glial cells and upregulated genes associated with AD progression. APC treatment downregulates inflammatory processes and recovers nervous system functions.
Researchers have designed a candidate drug to target the K-Ras G12D mutation, responsible for nearly half of all pancreatic cancer cases. The molecule permanently modifies the mutation, stopping tumor growth in cancer cell lines and animal models.
Researchers found that the SYNGAP1 gene has a dual function in regulating synapses and synaptic plasticity, which may lead to new treatments for children with SYNGAP1 mutations. The study suggests that targeting just one aspect of SynGAP's function is not enough to have a significant impact.
A study published in Cancer Research Communications reveals a potential genetic marker associated with better survival outcomes in patients with head and neck cancer. The researchers found that the presence of a specific genetic variant and higher expression of the GAN gene product gigaxonin may contribute to improved survival rates.
A UNLV-led research team has made groundbreaking discoveries about how cells detect and destroy disease-causing proteins using complex nanomachines called cullin-RING ligases. The findings may accelerate drug discovery studies and provide insights into human disease.
Researchers have identified a link between CCHS and the ubiquitin transfer system, revealing that aberrant interaction with this system disrupts normal neural protein degradation, leading to cell death. This discovery could pave the way for significant advances in disease therapeutics.
A team of researchers found that diffuse anaplasia (DA) subtype of Wilms tumor grows despite high DNA damage and TP53 mutation, leading to resistance to chemotherapy. The study suggests that DA histology emerges through accumulating DNA damage and CNAs, creating selection pressure for TP53 mutations.
Researchers have discovered a key enzyme that stops cancer cell death and found it plays a pro-survival function in cancer cells. This finding provides crucial information for developing new cancer-fighting strategies.
Researchers found XRCC1 to have both positive and negative correlations with prognosis across different tumors. The study also revealed associations between XRCC1 expression and DNA methylation patterns, TMB, MSI, immune cell infiltration levels, and immune checkpoint gene expression.
A recent study published in Nature Plants reveals that O-glycosylation of the transcription factor SPATULA promotes Arabidopsis style development. The experimental study sheds new light on the mechanisms underlying plant organ symmetry.
Researchers developed an mRNA therapeutic that combats ovarian cancer by producing functional p53 protein, shrinking and killing tumors. The treatment is effective against metastases and has shown promise in preclinical studies.
Researchers discovered a mutation in the APOA4 gene causing chronic kidney disease by analyzing DNA from affected families. The mutation leads to unstable and aggregated APOA4 protein depositing in the kidney, resulting in progressive kidney disease.
Researchers have discovered that RecA protein repairs breaks in double-stranded DNA without unwinding the helix, leading to a new understanding of homologous recombination. This breakthrough has significant implications for breast cancer research and may lead to new treatments.
Researchers have made a groundbreaking discovery linking a genetic defect in the MGP gene to autosomal dominant spondyloepiphyseal dysplasia, a rare skeletal disorder. The study highlights the importance of the MGP gene and its role in skeletal development, paving the way for potential therapeutic interventions.
Researchers identified gartisertib as a potent ATR inhibitor that enhances cell death in patient-derived glioblastoma cell lines. The study also showed synergy between gartisertib and TMZ+RT treatment, with higher sensitivity to gartisertib observed in MGMT promoter unmethylated cells.
A study by researchers from Japan has revealed that cysteine persulfide, produced by cysteinyl-tRNA synthetase, regulates cellular longevity in budding yeast. The study found that introducing supersulfides can reverse detrimental effects on mitochondrial energy metabolism and protein quality.
Scientists have created a new generation of prime editors based on the Cas12a protein and circular RNAs, expanding the scope of precision genome editing. The new editors show high editing efficiencies and low off-target effects, paving the way for diverse applications in biological research, disease treatment, and crop breeding.
A new study challenges traditional male-focused autism research by revealing striking similarities in synaptic abnormalities and behavioral patterns between male and female mouse models. This finding emphasizes the necessity of considering both sexes to comprehensively grasp the complexities of autism spectrum disorder.
Researchers discovered a trio of protein segments guiding chromosomal interactions in nematodes, shedding light on the complex process. The study, published in PNAS, provides new insights into meiosis and infertility, with implications for human reproductive health.
A novel inhibitor drug, KRB-456, has been discovered to target the KRAS G12D mutation in pancreatic cancer patient-derived tumors. The study demonstrates that KRB-456 significantly inhibits tumor growth in mice, offering a promising therapeutic option for KRAS-driven cancers.
Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.
A study published in Nature Communications sheds light on the critical role of P4-ATPases, particularly ATP8B1-CDC50A, in maintaining lipid asymmetry in cell membranes. The research team used cryo-electron microscopy to determine the structure and function of the human flippase complex, revealing its regulation by phosphoinositides.
A recent study by Goethe University Frankfurt has identified a mechanism that could be a suitable starting point for developing novel drugs against leukemia cells. The researchers discovered that the mutated NPM1 gene variant drives pro-autophagic activity, enabling cancer cells to recycle their structures and meet their needs.
Researchers at Kyoto University developed a new reactant demonstrating efficacy on proteins with drug-resistant mutations. The new inhibitor, ArNASA, reacts with lysine residues and is highly stable in physiological environments.