Articles tagged with Mutant Proteins
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.
The study reveals that mutations of the p53 protein are critical for driving cancer growth, and its loss-of-function is the primary contributor. Researchers used CRISPR to remove mutated versions of the protein and found no evidence of gain-of-function contributing to cancer growth.
A new study by Tulane University has identified a previously unknown molecular pathway that could halt lung cancer growth. The research found that protein RBM10 can suppress lung cancer by targeting the function of c-Myc, a protein that drives cancer cell growth and proliferation.
Researchers tested AlphaFold2's ability to predict protein structure changes from single point mutations. They found that AlphaFold can accurately predict deformation at the chromophore-binding site, leading to accurate predictions of fluorescence in fluorescent proteins.
A recent study published in the Journal of Cell Biology has made significant progress in understanding autophagy and lipid recycling. Researchers used yeast as a model organism to identify key players in the process, including Atg15, Pep4, and Prb1, and demonstrated that Pep4 and Prb1 activate Atg15 to break down phospholipid bilayers.
Researchers discovered a malaria protein, PfAP2-P, that plays a key regulatory role in immune evasion and parasite development. This protein acts as an activator of proteins required for the parasite to exit infected red blood cells and invade new ones.
Research found that nematodes can sense danger by smell, triggering a neural circuit that induces a response in other tissues, leading to a longer lifespan and less protein aggregation. The study suggests that manipulating perceptions of chemical substances could be a route to intervention in neurodegenerative diseases.
Researchers at the University of Texas Health Science Center discovered a gene therapy approach that can restore motor functions in mice with Contactin-Associated Protein 1 (Cntnap1) mutations. The study found that turning on the normal gene earlier improves the rescue outcome, and the next phase is to test this approach in humans.
Scientists have developed a technique to restore the function of human-derived GPCR proteins in yeast cells, which could accelerate research and lead to more effective treatments. The approach, using error-prone polymerase chain reaction, introduces random mutations that enhance protein stability and function.
Scientists have discovered two 'switch' regions in the structure of the K-Ras protein that are affected by dangerous mutations. These regions, located near a protein loop, can amplify cell division and lead to cancer. Researchers say their findings provide new insights into the mechanisms of these mutations and potential drug targets.
Researchers at Johns Hopkins have published a guide for prioritizing the next steps in completing the human genome catalog. The study highlights the importance of cataloging non-coding RNA genes and enhancing databases of gene variations that cause illness and disease.
Scientists at Johns Hopkins Medicine have identified a protein mutation in CD8+ T cells that can make them more effective against cancer and infections. The mutated T cells were found to be more active when stimulated, persist longer, and expand in great numbers during the initial immune response.
Researchers discovered that intrinsically disordered regions (IDRs) in proteins play a critical role in chromatin regulation and gene expression. IDRs form droplets called condensates that separate from surrounding fluid, allowing proteins to congregate and carry out cellular activities.
Researchers identified two SARS-CoV-2 protein mutations linked to severe COVID-19 symptoms and increased inflammation. The mutations, known as KR, were found in patients with higher viral loads and more severe symptoms.
A new study reveals that flow-sensing cilia activate BICC1 to regulate organ laterality, with a complex network involving ANKS3 and ANKS6. The discovery provides fundamental insights into gene expression and opens avenues for therapies of genetic disorders.
A study led by Weill Cornell Medicine researchers found that some ion channels can rearrange into a larger structure, enabling drug delivery. The discovery solves a long-standing mystery about ion channel dynamics and has implications for pharmaceuticals.
The study reveals that magnesium transport proteins are essential for plant metabolism and chloroplast functioning, impacting growth and yield. The analysis of three newly identified magnesium release and transporter proteins shows their importance in photosynthesis.
A global team of scientists has identified 39 genetic mutations associated with heart failure and pinpointed seven druggable proteins that may prevent its onset. The findings could help physicians identify and treat at-risk patients before heart failure occurs.
Researchers discovered a new mechanism underlying the heat shock response in Escherichia coli. IbpA suppresses σ32 translation, regulating Hsp expression and aiding cell protection under high temperatures. This finding sheds light on bacterial adaptation to harsh environments.
Researchers at St. Jude uncover how ABCG2 protein removes chemotherapies from cells, highlighting a potential path to combat drug resistance. The study identifies key amino acids responsible for this promiscuity and suggests designing inhibitors targeting these sites.
Scientists have discovered an additional source of genetic mutations that cause rare conditions like Huntington's disease. Expanded CAG repeat RNA can form aggregates that reduce global protein synthesis and lead to neurotoxicity.
Researchers identified a mutation in the TMCO3 gene in two sisters with short stature, and found it regulates expression of proteins controlling bone growth. A mouse model lacking the gene confirmed its role in longitudinal growth.
A new machine-learning method, BigMHC, can accurately predict cancer-related protein fragments that may trigger an immune system response. By leveraging massive data through transfer learning, BigMHC enables scientists to develop personalized immunotherapies and vaccines by identifying the most likely to provoke an immune response.
Researchers aim to treat pancreatic ductal adenocarcinoma by targeting amino acid transporter SLC6A14 and compensatory nutrient scavenging mechanisms autophagy and macropinocytosis. Using alpha-methyl-L-tryptophan and hydroxychlorquine, the study seeks to improve therapeutic outcomes in patients with pancreatic cancer.
Researchers Yuesheng Zhang and his team aim to understand how mutated p53 proteins regain their cancer-fighting abilities through the manipulation of interactions with peptidase D (PEPD). The goal is to develop novel treatment strategies targeting PEPD to restore antitumor properties in various forms of cancer.
Researchers at Salk Institute discovered molecular mechanisms of HIV drug-resistance to Dolutegravir, a breakthrough that could lead to the development of new HIV therapeutics. The study revealed how changes in integrase protein structure can lead to resistance and how another compound, 4d, may overcome this resistance.
A novel stress signalling system has been discovered by SMART researchers, enabling bacteria cells to adapt and survive against the immune system and certain antibiotics. The breakthrough discovery of RlmN as a stress sensor may lead to the development of new therapies to combat antimicrobial resistance.
Researchers have successfully visualized the three-dimensional structure of human tRNA splicing endonuclease TSEN, a crucial enzyme in tRNA maturation. The study reveals how TSEN recognizes and excises introns from precursor tRNAs, shedding light on its role in neurodegenerative disorders like pontocerebellar hypoplasia.
Researchers investigated hepatic hydrogen sulfide production in a mouse model of Hutchinson-Gilford Progeria Syndrome (HGPS) and found reduced H2S levels in RC-fed mice, with partial rescue on high-fat diet. This study suggests that accelerated aging in HGPS may be partially explained by reduced hepatic H2S levels.
A novel antisense therapy has restored fragile X protein production in human cell samples, revealing aberrant alternative splicing of messenger RNA as a key factor in fragile X syndrome. This finding offers real hope for developing new treatments and improving the lives of individuals affected by the condition.
Researchers from Universitat de Barcelona and Universitat Internacional de Catalunya discuss the non-receptor protein tyrosine kinase Src as a good example of an oncogene. Targeting the Src N-terminal regulatory element (SNRE) has potential as oncotargets to inhibit Src activity only in cancer cells.
A University of Ottawa team has discovered a vital role for the VGLUT3 transporter protein in modulating the development of Huntington's disease. The study shows that blocking glutamate release through this protein can lead to an amelioration of the disease progression, offering new hope for potential treatment approaches.
Researchers analyzed BORIS mutations and protein expression in breast cancer tissue samples, finding frequent mutations associated with breast carcinoma progression. The study suggests the BORIS gene as a potential biomarker for breast cancer.
Researchers updated their protein localization prediction model, MULocDeep, to provide more targeted predictions for biological discoveries. The tool helps researchers design more effective experiments and advance scientific discoveries related to drug development and treating diseases like epilepsy.
A team of researchers has identified TAK1 as a regulator of skeletal muscle mass, slowing down disease progression and improving muscle function in Duchenne muscular dystrophy. By targeting this protein, they can suppress muscle fiber death and enhance myofiber growth, offering a promising new approach to treatment.
Researchers have cloned the wheat rust resistance genes Lr9 and Sr43, revealing that they encode unusual kinase fusion proteins. This breakthrough enables new options for addressing disease resistance in bread wheat and could lead to heat-resistant versions of the Sr43 gene to adapt to climate change.
Researchers found that a mutation in RPL3L, expressed only in heart and skeletal muscle, leads to impaired cardiac contractility by causing ribosomal collisions and protein folding abnormalities. The study aims to develop new treatments for cardiomyopathy and atrial fibrillation.
Researchers from Nara Institute of Science and Technology developed a fluorescence-based monitoring system to study BAR protein assembly. The study found that WASP, Cdc42, and other proteins facilitate GAS7 assembly on lipid membranes, promoting cellular shape formation and protein signaling.
Researchers have built a new model to examine Usher Syndrome, a leading cause of combined deafness and blindness. The model replicates the visual problems not addressed by previous models, offering insight into strategies for designing therapeutic interventions.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.
Researchers at Cold Spring Harbor Laboratory have developed a potential therapeutic for diffuse intrinsic pontine glioma (DIPG) using antisense oligonucleotide technology. The treatment has slowed tumor growth, reversed changes in cancer cells, and increased survival rates in mice with DIPG.
Researchers discovered a single amino acid mutation in glutamate transporter protein causes transient loss of muscle control. The mutation affects the protein's shape and transport rate, leading to reduced glutamate transport and increased anion imbalance in neural cells.
Researchers found that cells in the colon undergo a type of molecular time travel, reverting back to an embryonic state and creating immature, non-functional cells that can form benign growths called adenomas. Blocking Sox9 in mouse models prevented adenoma formation and resulted in mature cell maturation.
A small molecule discovered by University of Houston researchers could potentially shorten the course of SARS-CoV-2 infection, offering a new alternative treatment option for COVID-19. The compound, CD04872SC, has shown promise in neutralizing the virus and its variants Delta and Omicron.
A study by Indian Institute of Science researchers found that enhanced recombination in the SARS-CoV-2 Omicron variant resulted in new mutations affecting viral proteins, particularly those involved in host-cell binding. These mutations enabled the virus to evade immune defenses and infect host cells more efficiently.
Researchers have developed a super-resolution microscope with a spatio-temporal precision of one nanometer per millisecond using the MINFLUX technique. This allows them to observe tiny movements of single proteins, including the stepping motion of kinesin-1 along microtubules while consuming ATP.
A multicenter study found that patients with cystic fibrosis can safely take a dual combination of CF modulator drugs for four years while maintaining previously achieved clinical improvement. This breakthrough therapy has improved the quality and length of patients' lives, with some even seeing a 15% increase in lung function.
A novel rare mutation in the ABCA12 gene was identified as a cause of Harlequin Ichthyosis through BGI genetic tests. The mutation leads to a severely dysfunctional protein responsible for the disease's serious phenotype.
Researchers at the University of Sheffield's Institute of Translational Neuroscience have discovered a novel way to block the transportation of mutant RNA and toxic repeat proteins that lead to the death of nerve cells in most common forms of motor neurone disease (MND) and frontotemporal dementia (FTD). Using a peptide, they found tha...
Researchers at Tufts University School of Medicine found that p97 protein mutations can cause organelle miscommunication, leading to the accumulation of molecules on mitochondria-endoplasmic reticulum contacts. This miscommunication can modulate membrane rigidity and impact interorganelle interactions.
Researchers found that measles virus mutations in its fusion protein allow it to infect nerve cells, leading to subacute sclerosing panencephalitis. The team's discovery sheds light on the evolutionary mechanisms of viruses like coronaviruses and herpesviruses.
Researchers at St. Jude Children's Research Hospital used cryo-electron microscopy to capture the first 3D structure of SPOP, a protein mutated in prostate and endometrial cancers. The study revealed previously unknown interfaces that harbor cancer-causing mutations, shedding light on how SPOP drives cancer.
A germline mutation of topoisomerase II B affects the movement of proteins in the nuclei of cells with this mutation. The study reveals that the mutation impacts nuclear dynamics and provides a platform to understand the biological relevance of such mutations.
Researchers found a genetic alteration in the SARS-CoV-2 spike protein that redirects the virus into a storage compartment within cells, reducing its surface exposure. This change may affect the immune system's ability to identify and kill infected cells.
Researchers discovered host proteins APOBEC3 can aid HIV's latency, a major hurdle to cure research. The finding raises questions about the role of these proteins and potential ways to block their activity to inhibit viral persistence.
Researchers discovered a point mutation in the fruit fly Drosophila melanogaster that leads to a temperature-dependent lengthening of circadian clock periods. The mutation affects the nuclear export signal of the PERIOD protein, resulting in its retention in the cell nucleus at higher temperatures.
Researchers discovered a molecular 'clamping' mechanism within a male-specific protein-DNA complex that exploits a water molecule to stabilize the complex and enable sex reversal. The study sheds light on Swyer Syndrome, a condition where children with XY chromosomes develop female bodies.
Researchers have discovered the three-dimensional structure of phosphoinositide 3-kinase alpha (PI3Kα) and how it changes with cancer-associated mutations. This knowledge enables the design of targeted drugs that can specifically bind to mutated versions, potentially eliminating side effects associated with current PI3Kα inhibitors.
A team led by UMass Amherst scientist Margaret Stratton is studying the calcium-sensitive protein CaMKII to understand long-term memory and its potential therapeutic applications. The research has far-reaching implications for treating neurologic diseases, cardiac dysfunction, and infertility.