Articles tagged with Mutant Proteins
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers at Queen's University have uncovered molecular mechanisms of a cancer-causing protein linked to thyroid cancer, paving the way for new treatments and potential prevention methods. The study provides valuable tools for targeting specific actions of the protein, which may aid in the development of anticancer therapies.
Researchers identified a key mechanism behind Rett Syndrome by pinpointing the S421 site on the MeCP2 protein responsible for its normal function. This specificity explains why mutations affecting that site target brain development, leading to delays in motor skills and speech loss.
The MIT team analyzed 32,853 proteins and found the most complicated knot, a five-crossing trefoil knot, in only one protein. This knot may prevent the protein from getting sucked into the proteasome as it works, supporting the theory that complex knots are linked to the protein's function.
A defective protein transport pathway in zebrafish has been linked to severe skeletal deformities and craniofacial defects. The discovery provides a new animal model for studying the rare human syndrome CLSD, which shares strikingly similar defects.
Researchers identified a new protein, JET, required for the circadian response to light in fruit flies. The protein's mutation disrupts the body's internal clock, leading to jetlag-like behaviors.
A study published in Nature Neuroscience reveals that polyQ-AR, a mutated protein in Kennedy disease, inhibits fast axonal transport by activating JNK enzyme. This inhibition leads to selective neuron death and loss of motor neurons.
Researchers identified a network of proteins that interact with each other when mutated, leading to degeneration of nerve cells and ataxias. The study provides a mechanistic basis for understanding disease, allowing for potential treatments to be designed to interrupt cellular missteps.
Researchers discovered a single base pair change in the aquaporin-2 protein gene, leading to improper distribution and resulting in up to 30 times more urine being produced. This study provides new insights into congenital progressive hydronephrosis, a condition that can lead to kidney failure and death if left untreated.
Researchers discovered a mechanism by which misfolded SOD1 proteins form aggregates that kill motor neurons in ALS. The normal form of SOD1 is recruited to participate in disease formation through intermolecular disulfide bonds, providing potential sites for therapeutic intervention.
Researchers found that polyglutamine proteins can destabilize the cell's system by interfering with other proteins having difficulty folding, leading to massive consequences. The study suggests a common mechanism may underlie various neurodegenerative diseases, including Huntington's and ALS.
Researchers found SCA5 mutations in 90% of Lincoln's descendants, suggesting the past president may have had a neurological disorder. The discovery provides insight into molecular mechanisms common to SCA5 and other neurodegenerative diseases.
Researchers at NIAID identified a specific protein involved in resistance to the TB drug PA-824. By pinpointing this protein, scientists can develop improved versions of PA-824 and accelerate TB drug development.
Researchers found that expressing active MMP-9 in macrophages within atherosclerotic plaques leads to their rupture, causing blood clots and reduced blood flow. Additionally, the inactivation of focal adhesion kinase in cardiomyocytes promotes eccentric cardiac hypertrophy and fibrosis in mice.
Researchers discover that mutant lamin A proteins interfere with key controls of gene expression and cell cycle, leading to rapid aging in HGPS patients. The study suggests that similar missteps may be part of normal human aging.
A Northwestern University study using live-cell time-lapse spectroscopy clearly links the presence of mutant SOD1 protein aggregates with neuronal cell death in ALS. The research provides a new understanding of aggregate structure and composition, offering hope for developing genetic suppressors and therapeutics.
Small single-domain proteins, often referred to as 'two-state folders', fold into their three-dimensional structures by crossing only a single barrier. A new interpretation of mutational data suggests that this process involves a fully formed helix in the transition state.
A genetic mutation in ataxin-1 enhances protein activity, leading to toxic levels and degeneration. The study sheds light on the mechanisms of rare diseases and their implications for more common ones.
Research reveals that sticky mutant proteins in patients with inherited ALS cause the disease by promoting abnormal interactions with other proteins or membranes. The study suggests that understanding how tissues handle these protein forms could lead to new treatments for some forms of ALS.
A research team has identified a genetic defect that weakens blood vessels in the brain, making infants vulnerable to cerebral hemorrhage. The discovery may lead to new strategies for disease prevention, such as reducing stress during birth.
Researchers at UCLA Neuropsychiatric Institute developed a mouse model showing that mutant HD proteins exert influence on nearby brain cells, which interact with target cells to spark disease. The study provides direct genetic evidence for the role of cellular interactions in Huntington's disease progression.
Studies in mice with genetically engineered mutant huntingtin protein found that widespread production led to locomotor problems, neurodegeneration, and abnormal brain connections. Conversely, restricted production showed little difference from normal mice, suggesting cellular interactions play a significant role in HD pathogenesis.
Researchers discover risk-increasing mutation in non-coding region of RET gene associated with Hirschsprung disease, challenging traditional focus on protein-coding sequences. The study highlights the importance of non-coding regions in disease development.
Aptamers may have therapeutic effects against cancer by blocking RET downstream signaling events. The study uses whole-cell SELEX to identify macromolecules with potential therapeutic effects against other transmembrane receptors involved in tumorigenesis.
The study found that inclusion bodies in Huntington's disease are beneficial coping responses, sequestering mutant huntingtin protein and prolonging neuron survival. The researchers used robotic microscopy to track changes in individual neurons over time, enabling them to identify factors that predict cell fate.
A robotic microscope system allowed researchers to track changes in individual neurons over time, revealing that formation of inclusion bodies prolongs neuron survival. Neurons with larger gene mutations had a higher cell death rate, but the overall death rate remained constant.
Scientists have found that a longevity protein called SIRT1 delays the breakdown of axons in nerve cells, potentially slowing neurodegenerative diseases. The discovery opens new avenues for treating Parkinson's disease, Alzheimer's disease, and other disorders.
Researchers found that the mutant SOD1 protein selectively migrates to spinal cord mitochondria, triggering apoptosis and cell death. This mechanism provides potential insight into how ALS-linked mutations cause degeneration in affected tissues.
Researchers found that APOBEC3F protein can evade VIF's destruction of retroviral restrictors, potentially contributing to HIV resistance. The 'search and destroy' defense of APOBEC proteins may play a crucial role in resisting HIV infection.
Rett Syndrome researchers successfully introduced the 'Rett protein' into post-mitotic neurons, reversing symptoms in mice. This breakthrough could pave the way for new treatments and potentially even cures for Rett Syndrome, a devastating neurological disorder primarily affecting girls.
Messenger RNA (mRNA) stability plays a crucial role in determining disease severity in nervous system mutations, according to researchers at Baylor College of Medicine. Aberrant mRNA forms are usually eliminated through nonsense-mediated decay, but some escape and lead to defective protein production.
A yeast model study has identified a key link between alpha-synuclein protein overexpression and Parkinson's disease, shedding light on the protein's role in neurodegeneration. The research found that doubling the expression of alpha-synuclein gene in yeast cells led to toxic inclusion bodies causing cell death and neurodegeneration.
Researchers at Thomas Jefferson University and the University of Michigan have identified a gene defect behind a devastating muscle-wasting disease. The study found that a mutation in the Omi/HtrA2 protein causes neuronal cell death by impairing mitochondrial function.
Researchers have identified a molecular understanding of the abnormal proteins causing retinitis pigmentosa, a degenerative eye disease. They will now focus on designing effective drugs to delay disease progression by stabilizing the mutated rhodopsin protein.
A research team led by H. Ronald Kaback solved the three-dimensional structure of the bacterial membrane transport protein lacose permease (LacY), shedding light on its mechanism and function. The resulting structure revealed intricate interactions between amino acids, sugars, and protons, providing crucial insights into membrane trans...
Researchers used 3D imaging to study ALS mutant proteins, finding they interact incorrectly and form toxic complexes that interfere with nerve cell function. The study supports two theories: oxidative damage from mutant SOD1 protein and aggregation of protein complexes.
Stanford researchers have identified a potential cause of prion disease, linking it to a mutation in a ubiquitin ligase that flags proteins for destruction. The study suggests that the buildup of cellular trash may contribute to the development of spongy degeneration, leading to neuronal death.
The CF Foundation is leveraging proteomics research to accelerate the discovery of new therapies for cystic fibrosis. By analyzing protein interactions and identifying novel targets, scientists aim to develop effective treatments that can correct faulty cells and prevent disease progression.
A new family of chloride ion channels has been identified in humans, which causes hereditary eye disorders. The discovery was made by a team of researchers at the Howard Hughes Medical Institute and found at least three other members of this channel family in humans, four in fruit flies, and 24 in the worm Caenorhabditis elegans.
A $1 million NIH grant will support Wilfredo Colón's study of familial ALS, a hereditary version of the disease. The research focuses on SOD1 enzyme mutants that lead to the disease's progression.
Researchers have identified ciliary proteins as key contributors to polycystic kidney disease progression. Mutations in these proteins can disrupt normal kidney function and lead to cyst formation.
A recent Mayo Clinic study suggests that the full-length mutant protein is responsible for toxicity in Huntington's disease, challenging traditional theories of clip-and-release. This new understanding may lead to more effective therapies by targeting the aberrant interactions of the mutant protein.
Hopkins researchers found that parkin, aS and synphilin interact, with mutations disturbing this interaction leading to Lewy body formation and nerve cell death. Understanding these interactions may help identify targets for new treatments.
Researchers have discovered a new protein component that controls calcium entry into cells and activates itself and other proteins, making it a potential new drug target for diseases like cancer and heart conditions. The protein, TRP-PLIK, is present in many tissues and its unique dual function has sparked interest among scientists.
Researchers at Memorial Sloan-Kettering Cancer Center have discovered a genetic mutation in the MAD2 protein that makes cancer cells genetically unstable and resistant to chemotherapy drugs. This finding may lead to new treatments and diagnostic markers for aggressive tumors.
Researchers have synthesized a protein called 5-Helix that jams the HIV grappling hook, preventing infection. The protein is stable and resistant to degradation, making it a promising candidate for injectable therapy.
Researchers have discovered a crucial genetic element that regulates alpha-synuclein protein activity, which is involved in both inherited and non-inherited forms of Parkinson's disease. By identifying this element, scientists hope to gain insights into the underlying mechanisms of the devastating disease.
Familial Dysautonomia, a devastating disorder, has been linked to mutations in the IKBKAP gene. The gene's disruption leads to poor development and degeneration of sensory and autonomic nervous systems, resulting in symptoms such as abnormal sweating and insensitivity to pain.
Researchers design 5-Helix protein to block HIV entry into human cells, offering a promising alternative to current treatments. The protein has potential applications as a broad-spectrum inhibitor against various viruses and could serve as a model for generating antibodies against HIV.
The targeted disruption of the PCI gene in mice leads to profound defects in sperm development and fertility. Human male infertility is also associated with a lack of PCI in seminal fluid, disrupting the balance of proteinases and proteinase inhibitors.
Researchers at Rockefeller University have identified a crucial region of the hepatitis C virus protein NS5A, which plays an essential role in viral replication. This breakthrough discovery could accelerate the development of effective drugs and vaccines against HCV, a leading cause of liver disease.
Researchers at UNC Health Care have identified the crystal structure of a key protein interaction involved in cancer cell spread. This discovery aims to develop targeted therapies against invasive cancer cells with minimal side effects.
Researchers at the University of Pennsylvania have discovered a key protein, VP40, crucial for Ebola's replication cycle. This finding holds promise for developing novel antiviral drugs to stop the spread of the deadly disease.
Scientists at the University of Michigan have discovered that Yersinia pestis, the bacterium that causes bubonic plague, uses an ancient agent to sever vital cell signaling pathways. This mechanism is shared by both plant and animal bacteria, including those that cause black rot and other diseases.
Scientists at Baylor College of Medicine identified new genes involved in RNA processing, transcriptional regulation, and detoxification that contribute to neurodegenerative diseases. The discovery provides new insight into the disease process and may lead to the development of drugs to slow or halt degeneration.
Researchers found that alpha-synuclein, a key component of Parkinson's lesions, is targeted by oxidative stress, specifically nitration. This discovery provides conclusive evidence for the role of oxidative damage in neurodegenerative diseases like Parkinson's and Alzheimer's.
University of Iowa researchers have identified a protein, brain sodium channel 1 (BNC1), that plays a role in the perception of light touch in mice. The discovery provides an important first step towards understanding the molecular basis for this process.
Researchers used frog extracts to study DNA replication in Bloom's Syndrome, finding the protein essential for this process. This discovery may lead to new treatments for human cancer, as the protein is likely to have the same function in humans.
Researchers have identified two proteins p73 and E2F1 that play important roles in programmed cell death, regulating the death of immune cells T cells. This discovery provides new insights into cancer research and the potential treatment of autoimmune diseases.
Researchers at Massachusetts General Hospital discovered a key link between presenilin gene mutations, altered calcium handling, and amyloid-beta42 production in Alzheimer's disease. Inhibiting a specific calcium pathway may lower A-beta42 levels, offering hope for preventing or slowing the progression of the devastating disease.
Researchers at the University of Toronto have isolated a key protein involved in the degeneration of nerve cells in Alzheimer's disease. The newly discovered protein, nicastrin, regulates the production of amyloid beta-peptide, a toxic derivative associated with the disease.