Articles tagged with Mutant Proteins
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A plant compound, cyclopamine, has been found to block the action of mutated cancer genes that produce basal cell skin carcinomas. The drug may be used to treat various types of cancers, including medulloblastomas in the brain and rhabdomyosarcomas in muscle.
Scientists create first bi-directional molecular motor by changing a single amino acid, disrupting the sense of direction in another. The discovery opens up new possibilities for understanding diseases caused by incorrect chromosome distribution during cell division.
Researchers have discovered a protein called p110g that suppresses colorectal cancer growth in mice and human cell cultures. The absence of the protein leads to spontaneous development of colorectal cancer, while its presence stops tumour growth.
Researchers have developed a new approach to block HIV protease by using small molecules as a 'molecular wedge' to prevent protein interaction. This method may help prevent drug resistance and could be used to treat various diseases, including autoimmune disorders. The study is currently being tested at the National Institutes of Health.
A specific gene, espin, is linked to deafness and abnormal behaviors in jerker mice. The mutated gene affects hair cell function, leading to false signals sent to the brain, which causes animals to move erratically.
Scientists have discovered that mutant protein fragments selectively accumulate in the nuclei and axon terminals of neurons in the brain affected by Huntington's disease. This accumulation is thought to inhibit neurotransmitter release, causing the death of specific neurons.
The BRCA1 protein is at the catalytic heart of a vital DNA control complex that coordinates physical access to DNA for gene transcription. Mutant BRCA1 can lead to cancer by interfering with this complex.
Researchers developed an algorithm to calculate protein association rates and increase affinity by genetically determining protein design. The new system may lead to diverse medicinal applications, including antibody detection.
Researchers have found that a tough protein wall in sorghum seeds slows down digestion, but Hamaker's work identified an uncommon variety with improved digestibility. The study could lead to more nutritious sorghum crops for human consumption and animal feed.
Scientists from Max Planck Institute report correlation between impaired RNA editing and epilepsy. Genetic manipulation in mice reveals that correcting the defect can lead to improved brain function and reduced seizures. The study suggests a potential link between human genome sequence and neurological disorders.
Researchers at Dartmouth Medical School have clarified the molecular gears that drive biological clocks, revealing a simple model with striking parallels. The study found that light and dark cycles reset the clocks, but are not required to run them, and identified fundamental properties shared among all living clocks.
Researchers at Cornell University have discovered how a hyperactive form of the molecular switch Cdc42 disrupts orderly cell growth, leading to cancer. The team found that Cdc42 increases protein shuttling, overstimulating cellular activities and causing hallmarks of cancer cells.
Researchers identified a new axon guidance receptor, Dscam, found in the tips of growing neurons that can exist in over 38,000 different forms. This unprecedented diversity may provide a fundamental code for precise wiring of trillions of neurons in the brain.
Scientists at Northwestern University discovered that polyglutamine aggregates are toxic and can bring healthy proteins to aggregate with them. The growth of these aggregates can be suppressed by molecular chaperones called heat shock proteins. This finding provides a new model for understanding the common pathology of neurodegenerativ...
A Northwestern University research team has discovered the first enzyme to play a role in the mammalian circadian clock, contributing significantly to understanding of circadian rhythm-related problems. The identified casein kinase I epsilon (CKIe) enzyme interacts with PERIOD proteins, affecting the timing of the circadian cycle.
Researchers found that HIV inactivates a tumor suppressor gene, contributing to Burkitt's lymphoma development. The study suggests a new mechanism linking HIV and the disease.
A signaling protein acts as a 'messenger of death' to execute apoptosis, a process regulating cell numbers and connections. The discovery could offer targets for drugs preventing cell death related to heart attacks, strokes, or Alzheimer's disease.
A NY pilot study is pushing the Human Genome Project towards developing promising drug targets for disease. The initiative uses recent advances in computational biology to quickly analyze and categorize proteins, focusing on those that cause or treat diseases.
Researchers identified distinct regions in the DNA where random genetic changes are more likely to benefit or harm an organism, suggesting a potential way to analyze genetic information from humans and other species. The study's findings could aid in understanding how life developed various proteins.
A new study in mice suggests that increasing copies of the SMN2 gene can produce sufficient amounts of survival motor neuron (SMN) protein, potentially treating human SMA patients. The research found that activating the expression of this gene may provide a strategy for treating human SMA patients.
A new molecular engineering technique, inspired by centuries-old concept of principal axes of inertia, can help researchers identify functional regions on proteins crucial for drug delivery. This method may aid in developing molecular-modeling software to streamline the search process.
HHMI researchers found that yeast prions can transmit phenotypes through protein-protein interactions, hinting at the presence of undiscovered protein-based 'genetic elements'. This discovery offers a powerful new technique for exploring cells' machinery by selectively turning off specific proteins.
Researchers at UCSF discovered that prions, known for being deadly to cattle and humans, might serve a beneficial role in some organisms, including humans. They found evidence of prion-forming proteins in yeast species spanning 300 million years of evolution, suggesting prions aid survival.
Researchers found that mice lacking centromere protein B (CENP-B) suffer from reproductive failure due to defects in the uterus. The study suggests CENP-B plays a role in cell divisions that remodel the uterine lining during estrus and pregnancy.
A study has found that an enzyme involved in normal protein folding also regulates enzymes responsible for folding proteins in healthy cells. This discovery suggests a potential connection between protein misfolding and Alzheimer's disease, with implications for treatment. The researchers identified presenilin-1 as a key player in this...
A new study has found that a molecular traffic signal, HIV matrix protein, controls two opposing functions regulating the virus' life cycle. This discovery provides new targets for creating molecular gridlock and halting virus growth.
A team of scientists has discovered that a lack of the B cell linker protein (BLNK) is responsible for an immunodeficiency in mice and a young man with recurring bacterial infections. The study reveals that BLNK plays a crucial role in B lymphocyte development, leading to impaired immune function.
Researchers identified three key molecular actors involved in Fragile X syndrome, including the protein FMRP, which binds to messenger RNA molecules and regulates translation. The study sheds light on the cellular mechanisms underlying the disorder, potentially leading to new treatments for other types of mental retardation.
The structure of coagulation factor Va's membrane-binding domain has been determined, revealing a barrel-like shape with three major loops. This breakthrough provides new insights into the molecular details of blood clotting and protein-membrane association, with potential implications for cell-cell interactions and genetic diseases.
A study by MGH researchers has identified a gene malfunction that appears central to the development of type 1 diabetes. The malfunction affects the Lmp2 protein, which is required for immune system cells to recognize self-proteins, leading to an autoimmune reaction.
Seattle researchers have described the structure of factor VIII, a key blood-clotting protein implicated in hemophilia A. The discovery provides a key to developing improved blood-thinning medications and clotting agents for hemophiliacs, as well as better treatments for those at risk of stroke and heart attack.
Researchers from the Howard Hughes Medical Institute have identified a protein that works closely with Brca1 to initiate DNA repair. Mutations in this trigger protein may be responsible for more instances of breast cancer than Brca1 mutations, accounting for nearly ten percent of all breast cancers.
Biological molecules move electrons through proximity alone, with redox centers no more than 14 angstroms apart. This finding simplifies the design of new biologically active molecules for drug development.
A pair of hydrogen bonds in titin allows muscle to stretch and return to normal by regulating unfolding of protein sections. This finding is a significant step forward in understanding muscle elasticity and its role in cardiac muscular diseases.
Researchers at Vanderbilt University Medical Center have identified a key gene in acute leukemia, suggesting potential new treatments. The study found that the inv(16) translocation collaborates with AML-1 to turn genes off, even when they should be on.
Researchers found a three-stage unbinding profile of cadherins, which suggests a 'ratcheting' mechanism that prevents abrupt failure of adhesive junctions. This discovery may lead to the development of gene therapy for diseases associated with malfunctions or mutations of the cadherin protein.
Researchers at the University of North Carolina have identified latent membrane protein 1 as a key contributor to Epstein-Barr virus-induced cancer. The study found that mice with this protein developed lymphoma, highlighting its role in cancer development and potential target for prevention.
Researchers found a gene crucial for roundworm mating strongly resembles a gene involved in human polycystic kidney disease. The study uses Caenorhabditis elegans to understand the role of genes controlling reproductive behaviors, potentially shedding light on PKD1's function and its connection to kidney disease.
Scientists at UNC Chapel Hill study found that a protein called adenomatous polyposis coli (APC) helps destroy another protein, beta catenin, which can lead to cell proliferation and tumor formation if disrupted. Understanding this pathway may help block tumor development in humans.
Researchers successfully delivered fully functional proteins inside cells using a piece of the AIDS virus, overcoming the bioavailability wall that restricts large molecules. This technique has the potential to treat diseases such as cancer and genetic disorders by inserting working versions of damaged proteins into affected cells.
Scientists discover that removing two proteins controlling cell proliferation can lead to deadly consequences, including leukemia and immune system dysfunction. The study reveals critical regulatory roles of SOCS1 in T cells and its absence makes cells sensitive to cytokines.
Researchers at Purdue University have identified a protein segment crucial for the infection of cells by retroviruses and other viruses. By replacing just one amino acid in this region, they were able to eliminate fusion between the virus and its host cell. This discovery may lead to novel treatments to block the entry of these viruses.
Scientists at Rockefeller University have found that persistent activation of Stat3 protein can cause normal cells to behave like cancer cells. This discovery presents a promising new target in the fight against cancer and suggests that drugs inhibiting Stat3 activation may be effective.
Researchers have found another aberrant gene on chromosome 2 that produces identical symptoms to the X-chromosome gene discovered earlier. The discovery improves genetic diagnosis prospects and may help in developing future therapies for hypohidrotic ectodermal dysplasia.
Researchers found that a common antibiotic, gentamicin, can arrest disease progression in 15% of Duchenne muscular dystrophy patients with a specific genetic mutation. The approach may also be effective for similar subsets of people with other genetic disorders. Small-scale clinical trials are planned to test the treatment.
Researchers have discovered that plakin proteins bind to all three components of the cytoskeleton, providing an integrated bracing system that gives cells their strength and flexibility. This finding sheds new light on how nerve axons maintain their rigidity and allow for the transport of neurotransmitter-filled vesicles.
Recent findings in cystic fibrosis (CF) suggest that gene mutations can cause unexpected effects, leading to distinct conditions with clinical similarities to CF. Minor mutations may result in partial disease manifestations, challenging traditional notions of genetic screening and diagnosis.
Researchers at University of Chicago discover that a single amino acid change in viral protein ICP0 prevents herpes virus from entering nervous system. The finding reveals a potential new target for herpes vaccines or future therapies.
Biochemists identify a genetic slip causing cystic fibrosis by degrading the CFTR protein's twisted structure. A new approach uses heavy water to fix the mutant protein, paving the way for lab testing of non-toxic drugs.
Researchers identified a novel human gene, BRI, that causes an unusual form of hereditary dementia. The discovery provides new insights into the disease and may lead to the development of a blood test to detect the mutation.
The StAR protein plays a key role in the steroid-making system by partially unfolding to form a 'molten globule' conformation that enables it to work inside cells. This flexible state lowers energy required for channel opening in mitochondrial membrane, acting as an on/off switch for cholesterol transport.
Researchers at UT Southwestern Medical Center have discovered a key component of the proteasome that plays a crucial role in DNA repair and sensitivity to ultraviolet radiation. Deleting a part of this protein complex increases UV sensitivity, highlighting its involvement in repair mechanisms.
Researchers observe highly nonexponential folding times in yeast phosphoglycerate kinase and ubiquitin mutant proteins. Downhill folding theory suggests a protein encounters temporary structures en route to its native state.
A study published in Molecular Cell reveals that the mutated tumor suppressor gene ARF prevents cellular transformation by blocking p53 degradation, allowing it to stop tumor cell growth. Researchers found that mutations in ARF's Exon 2 are linked to cancer, impairing its ability to localize and block p53 export.
University of Illinois scientists developed a method to improve T-cell receptor properties, allowing for manipulation of the immune system's recognition molecules. This breakthrough could lead to new therapeutic approaches for diseases such as AIDS, cancer, and multiple sclerosis.
Dr. Stefan-M. Pulst will present five scientific sessions on spinocerebellar ataxia and a new brain tumor-discovery, expanding treatment options for neurodegenerative diseases. His team mapped a new gene SCA10 to chromosome 22, causing loss of gait and limb control.
Researchers identified a mechanism by which cytosine substitution can occur in non-dividing cells, leading to the production of mutant proteins. This process has significant implications for understanding age-related cell death, neurodegenerative diseases, and malignant transformation.
Beta catenin disrupts cell regulation by synthesizing cyclin D1, allowing cells to proliferate out of control. The finding offers a potential new target for drug therapy in colon and other cancers.
A new type of molecular cue, Slit, has been discovered that repels growing neurons and triggers them to sprout new connections in the developing nervous system. The discovery opens a promising new pathway to understanding how the brain and nervous system wires itself.
Researchers at Millennium Pharmaceuticals have cloned the mahogany gene, which produces a protein that can suppress diet-induced obesity in mice. The study found that mice with a mutated mg gene maintain a healthy weight on both high-fat and low-fat diets, suggesting a similar role in humans.