• The researchers performed gene sequencing on both father and son, and zeroed in on a single-letter mutation in a gene called NPSR1, which encodes a signaling protein that sits on the surface of neurons and was previously shown to be involved in regulating sleep. (eurekalert.org)
  • Nuclear transport protein RanGAP1 (red) clumps up with mutant Huntingtin protein (green) in neurons. (hopkinsmedicine.org)
  • In the featured article published online on April 5 in Neuron , the researchers also conclude that potential treatments targeting the transport disruptions they identified in Huntington's disease neurons may also work for other neurodegenerative diseases, such as ALS and forms of dementia. (hopkinsmedicine.org)
  • By using antibodies with glowing markers that bind to specific proteins and viewing the neurons under the microscope, Grima saw that the mutant Huntingtin protein clumped up in the same location of the cell as abnormal clumps of RanGAP1, the nuclear transport protein. (hopkinsmedicine.org)
  • Researchers have for the first time isolated and characterized protein complexes found at the points of connection between neurons. (spectrumnews.org)
  • Their new study began when Stephanie Correa, Ph.D., then an Ingraham lab postdoctoral researcher and now an assistant professor at UCLA, found that genetically deleting the estrogen receptor protein in hypothalamic neurons caused mutant animals to gain a little weight, and also to become less active. (medicalxpress.com)
  • The mice were genetically modified to express a mutant form of the human brain protein tau, which builds up and causes damage to neurons and atrophy of their brains by 9 months of age. (futurity.org)
  • In contrast, the source of the problem in SOD1 ALS is well-known: mutant SOD1 protein is toxic to neurons. (sflorg.com)
  • Effects of Deletion of Mutant Huntingtin in Steroidogenic Factor 1 Neurons on the Psychiatric and Metabolic Phenotype in the BACHD Mouse Model of Huntington Disease. (lu.se)
  • Here, using atomistic molecular dynamics simulation, we study the correlations between the RBD dynamics with physically distant residues in the spike protein, and provide a deeper understanding of their role in the infection, including the prediction of important mutations and of distant allosteric binding sites for therapeutics. (biorxiv.org)
  • Significant research effort for drug design against COVID-19 is focused on the receptor binding domain of the spike protein, although this region is prone to mutations causing resistance against therapeutics. (biorxiv.org)
  • 6 Significantly, the sites in S protein have been demonstrated to be vulnerable to acquire mutations. (biorxiv.org)
  • Genetic mutations found in patients who have an especially deadly form of non-Hodgkin lymphoma have led researchers to a better understanding of how the cancer develops and how it might be treated. (nih.gov)
  • All the mutations seemed to affect a small segment of the CARD11 protein known as the coiled-coil domain, which is required for proper CARD11 function. (nih.gov)
  • At the cellular level there are many causes of motor neuron death: DNA mutations, constant oxidative stress, and protein aggregation, among others. (sens.org)
  • The mechanisms by which specific ATP2A2 mutations impact the function of the ATP2A2 protein have been investigated using an in vitro model. (medscape.com)
  • In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
  • Additionally, he realized that other researchers previously showed that mutations in the nuclear pore protein NUP62 caused Huntington's disease-like pathology. (hopkinsmedicine.org)
  • This finding was quite tantalizing given the fact that mutations in the NUP62 protein were shown by other researchers to cause an infantile form of Huntington's disease called infantile bilateral striatal necrosis," says Grima. (hopkinsmedicine.org)
  • One of these mutations leads to production of faulty dynamin 2, a protein that is crucial for endocytosis but also latches onto microtubules. (rupress.org)
  • Using a suppressor screen, an assay that uses a chemical to randomly create base pair mutations in the mutant worm's genome, the researchers eventually zeroed in on a series of proteins in the bone morphogenic protein (BMP) signaling pathway. (cornell.edu)
  • Some inherited mutations can change the structure and property of myocilin protein, which can lead to toxicity and dysfunction of the eye cells responsible for regulating eye pressure. (brightfocus.org)
  • Mutations in some of these proteins are linked to autism. (spectrumnews.org)
  • However, there is still a significant unmet need for people with CFTR mutations who either do not respond to modulators, do not generate sufficient quantities of protein for correction, or block protein synthesis (i.e., premature stop codon mutations, splice mutations, insertion/deletion mutations, etc. (cff.org)
  • More than half of human malignant tumors harbor TP53 gene mutations, most of which are point mutations within the DNA-binding domain of TP53, resulting in mutant p53 (mutp53) protein stabilization and accumulation in the cell and enhanced tumor progression. (researchsquare.com)
  • The researchers put their method to the test by screening a huge library of bacterial strains created to produce FGF9, a human cytokine, and subjected to circumstances that cause random mutations. (titech.ac.jp)
  • Researchers have known for a while that mutations in this gene can lead to lower bone density, or osteoporosis. (listverse.com)
  • In genetic interactions, synergy occurs when the contribution of two mutations to the phenotype of a double mutant exceeds the expectations from the additive effects of the individual mutations [74]. (researchgate.net)
  • With this approach, researchers can compare several mutations by using different targeting vectors in the same parental ES cell clone. (genoway.com)
  • In addition, RMCE has great potential to allow researchers to comparatively analyze mutants, characterize domain-specific functions in proteins of interest, generate point mutations, generate large gene mutations, and generate entire replacements of a wildtype gene with a different gene of interest. (genoway.com)
  • Many mechanisms of protein function contribute to amyloidogenesis, including "nonphysiologic proteolysis, defective or absent physiologic proteolysis, mutations involving changes in thermodynamic or kinetic properties, and pathways that are yet to be defined. (medscape.com)
  • BACKGROUND: : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. (lu.se)
  • Huntington's disease (HD), a severe, inherited neurodegenerative disease that remains without a cure, is caused by an inherited genetic defect in the huntingtin (HTT) gene, which codes for the protein of the same name. (huntington.cl)
  • Overall, this gene silencing strategy allowed researchers to establish "the first human induced pluripotent stem cells with stable huntingtin knock-down, and they can be helpful for in vitro research on huntingtin functions in human development," the study concluded. (huntington.cl)
  • growing viruses in culture, purifying virions, extracting and characterizing viral DNA, and studying gene expression at the RNA and protein levels. (wikipedia.org)
  • sod-1 is a gene encoding superoxide dismutase 1 (SOD1), and mutant forms of this protein are responsible for some cases of familial ALS. (sens.org)
  • Using these conditions, she transfected Cas9, an sgRNA that targets a mutant green fluorescent protein (GFP) gene, and a repair template (small single-stranded DNA oligonucleotide). (broadinstitute.org)
  • The goal of her project was to repair the mutant gene such that GFP was repaired and expressed in the cells. (broadinstitute.org)
  • Her work lays the foundations for other researchers who want to use this protocol for genetic engineering and gene therapy purposes. (broadinstitute.org)
  • The mutant gene makes RNA molecules that stick to a transport protein, RanGAP1. (hopkinsmedicine.org)
  • University of Florida Health researchers have made a new discovery about Huntington's disease, showing that the gene that causes the fatal disorder makes an unexpected "cocktail" of mutant proteins that accumulate in the brain. (ufl.edu)
  • The disease stems from a genetic mutation in the Huntingtin gene that produces too many copies of a DNA segment known as CAG, which gives rise to a longer Huntingtin protein with toxic effects. (ufl.edu)
  • The mutation takes the form of extra DNA, and causes the gene to produce a longer-than-normal protein. (neurodegenerationresearch.eu)
  • Whether patient-derived or gene-edited, all motor nerve cells with the mutation had reduced amounts of the protein normally made by the C9ORF72 gene. (neurodegenerationresearch.eu)
  • The first type is a large, toxic protein produced by the mutated C9ORF72 gene itself. (neurodegenerationresearch.eu)
  • The intracellular proteins relay the signal to the nucleus and affect gene expression. (cornell.edu)
  • Toronto, ON - April 12, 2004 - Researchers at the University of Toronto say they have isolated a gene that predisposes people to Chrohn's disease. (labcanada.com)
  • The gene isolated by the researchers produces a protein that sits on the cell surface and regulates how substances enter and exit the cell. (labcanada.com)
  • Two researchers balk at talk that Wi-Fi and autism are linked, changes in an autism risk gene are tied to obsessive-compulsive traits in three species, and scientists plan to conduct a census of all of the brain's cell types. (spectrumnews.org)
  • It is hoped that one day, a controlled form of the mutant gene could be used to end bone disease. (listverse.com)
  • Interestingly, there are two versions of this mutant gene, and athletes with both have been found to perform consistently better than their conventionally chromosomed counterparts. (listverse.com)
  • Then they characterized the three TPC proteins: MpTPC1 from the Type 1 TPC gene and MpTPC2 and MpTPC3 from the Type 2 TPC gene. (sciencedaily.com)
  • The mutant that lacked a functional TPC1 gene showed no SV channel activity. (sciencedaily.com)
  • In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)
  • HD is caused by a mutation in the human HTT gene that results in an abnormal expansion and misfolding of the corresponding huntingtin protein. (buckinstitute.org)
  • The large number of clinical cases in 2001 selective pressure on the envelope (E) protein gene of may have been due, in part, to a preponderance of infec- some dengue viruses is evident (19), the most extensive tions with dengue 1 viruses. (cdc.gov)
  • Researchers generated the first human line of Huntington's disease induced pluripotent stem cells (iPSCs) that do not express the dysfunctional protein underlying the condition. (huntington.cl)
  • In this study, researchers generated both mouse and human Huntington's disease iPSCs with a stable silencing of the mutated HTT protein. (huntington.cl)
  • This way, they were able to investigate how a stable decrease of mutant HTT impacts other signaling pathways, focusing particularly on the factors previously reported as affected in Huntington's disease - the mitogen-activated protein kinase (MAPK), Wnt, and p53. (huntington.cl)
  • Researchers observed that in mouse Huntington's disease iPSC lines, the levels of HTT protein were inversely correlated with those of the p53 protein - the levels of p53 increased upon silencing the mutant HTT. (huntington.cl)
  • These findings are particularly important since "previously, p53 was shown to be involved in Huntington's disease [development], with total levels in the brain increasing with Huntington's disease severity and particularly being upregulated in late Huntington's disease stages, in grade 3 and 4 patients," researchers wrote. (huntington.cl)
  • Scientists have created a tool for mopping up the clumps of mutant protein that drive neurodegeneration in Huntington's disease. (scienceblog.com)
  • Emory University researchers engineered a virus to make an intracellular antibody or "intrabody" against huntingtin, the protein whose mutant forms poison the brain cells of people with Huntington's. (scienceblog.com)
  • Researchers saw an average 40% reduction in mutant huntingtin protein (mHTT) in the cerebral spinal fluid (CSF) of Huntington's disease patients who were treated for 3 months with the two highest doses of IONIS-HTT Rx (also called RG6042). (medpagetoday.com)
  • Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center - the nucleus - appear to be a direct cause of brain cell death in Huntington's disease, an inherited adult neurodegenerative disorder. (hopkinsmedicine.org)
  • Huntington's disease is caused by a mutation in the Huntingtin protein, resulting in too many repeats of the amino acid glutamine in the protein's sequence, making the protein sticky and clumpy. (hopkinsmedicine.org)
  • Grima used two mouse models of Huntington's disease: one with a human version of the mutant Huntingtin protein and another with an aggressive form of the disease that contains only the first portion of the mouse Huntingtin protein. (hopkinsmedicine.org)
  • Grima also observed this same clumping of Huntingtin protein with RanGAP1 and nuclear pore proteins to the wrong place in the cell in brain tissue and cultured brain cells derived from deceased patients with Huntington's disease. (hopkinsmedicine.org)
  • The UF researchers examined the brains of 12 deceased adult and juvenile patients with Huntington's disease. (ufl.edu)
  • Along with a protein already implicated in Huntington's disease, the researchers found four proteins that also contribute to the disease pathology. (ufl.edu)
  • BaƱez-Coronel said this was the first time the accumulated proteins related to Huntington's disease were extensively found in white matter, an inner part of the brain containing cells that support neuronal function. (ufl.edu)
  • Knowing that rogue proteins are implicated in Huntington's disease is just the first step. (ufl.edu)
  • The results of the first trial are 'a triumph' for Huntington's patients and their families since existing medications only help to manage the symptoms of the disease, one of the researchers told DW. (dw.com)
  • Scientists at the University College London (UCL) on Monday announced that for the first time a drug has been used to successfully lower the level of a protein known to cause Huntington's disease in the nervous system of patients. (dw.com)
  • Professor Sarah Tabrizi, director of the UCL Huntington's Disease Centre, said in a statement that not only was it the first time a drug managed to lower the levels of the toxic protein, but that IONIS-HTTRx was "safe and well-tolerated. (dw.com)
  • The researcher noted, however, that a much larger, longer trial is needed to show that IONIS-HTTRx can slow the progression of Huntington's disease. (dw.com)
  • Treatments for Huntington's have typically focused on blocking the activity of the mutant HTT protein. (neurodegenerationresearch.eu)
  • These cells turned out to be very similar to those with Huntington's pathology, corroborating the idea that a lack of the protein-not an excess of it-is driving the disease. (neurodegenerationresearch.eu)
  • Researchers at the Buck Institute have identified and categorized thousands of protein interactions involving huntingtin, the protein responsible for Huntington's disease (HD). (buckinstitute.org)
  • In the first human trial, an experimental antisense drug (Ionis-HTTRx, Ionis Pharmaceuticals) successfully lowered the level of mutant huntingtin protein (mHTT) in spinal fluid of patients with Huntington's disease , researchers reported today. (medscape.com)
  • For the first time a drug has lowered the level of the toxic disease-causing protein in the nervous system, and the drug was safe and well-tolerated," Sarah Tabrizi, MD, PhD, director of the University College London Huntington's Disease Centre and global chief investigator of the phase 1/2a study of the drug, said in a statement issued by the university. (medscape.com)
  • Treatment with Ionis-HTTRx led to significant, dose-dependent reductions in mHTT - the first time the protein known to cause Huntington's disease has been lowered in the nervous system of patients. (medscape.com)
  • Ionis-HTTRx is designed to reduce the production of all forms of the huntingtin (HTT) protein, which in its mutated variant is responsible for Huntington's disease. (medscape.com)
  • 5 , 7 - 9 More specifically, a study analyzing 10,022 SARS-CoV-2 genomes from 68 countries revealed 2969 different missense variants, with 427 variants in the S protein. (biorxiv.org)
  • The study, "Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency," was funded in part by the National Science Foundation and was published in The Journal of Biological Chemistry. (missouri.edu)
  • In contrast to the wild-type p53 protein, missense mutant p53 (mutp53) proteins are stabilized and accumulate to high levels in the cell 11 . (researchsquare.com)
  • Then, they observed significant differences in the aggregation processes of each protein and found that oligomers develop at a much greater rate in early onset cases than in aging cases of Parkinson. (sciencedaily.com)
  • However, in ALS, mutated proteins that are prone to aggregation are brought together in stress granules where they form insoluble aggregates that are toxic to the cell. (sens.org)
  • Pharmacological chaperones are chemical compounds that can correct the structure or inhibit the aggregation of the misfolded proteins by entering the cells and binding to it. (brightfocus.org)
  • In this project, Dr. Wing Lee and colleagues will identify pharmacological chaperones that specifically inhibit aggregation of mutant myocilin proteins, which could lead to a new type of medicine for POAG. (brightfocus.org)
  • Only 10% of amyloidosis deposits consist of components such as glycosaminoglycans (GAGs), apolipoprotein-E (apoE), and serum amyloid P-component (SAP), while nearly 90% of the deposits consist of amyloid fibrils that are formed by the aggregation of misfolded proteins. (medscape.com)
  • Appropriate cell cycle regulation by ATM and other proteins is necessary to prevent abnormal cell growth, which can lead to cancer. (nih.gov)
  • [ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)
  • It also clumped up in the same location as abnormal clumps of nuclear pore proteins NUP88 and NUP62. (hopkinsmedicine.org)
  • On the basis of their findings, the researchers believe there is a possibility that RAN proteins contribute to eight other similar neurodegenerative disorders, including spinobulbar muscular atrophy and several types of spinocerebellar ataxia, which are also caused by an abnormal increase in the number of CAG repeats. (ufl.edu)
  • Polymorphisms that slightly vary native peptides or inflammatory processes set the stage for abnormal protein folding and amyloid fibril deposition. (medscape.com)
  • Researchers haveidentified for the first time the initial steps of alpha-synuclein protein aggregates related to early onsets of hereditary Parkinson cases. (sciencedaily.com)
  • For the first time, scientists observed how variants of the Parkinson's disease-associated protein alpha-synuclein change over time and were able to identify the initial stages of protein aggregates linked to early onset of familial cases of the disease. (sciencedaily.com)
  • Several neurodegenerative diseases appear to involve defects in protein folding and metabolism, leading to the accumulation of protein aggregates inside cells," he says. (scienceblog.com)
  • Our study suggests a strategy for dissecting the harmful effects of these protein aggregates in other diseases. (scienceblog.com)
  • Electron microscopy reveals loss of desmosomes (epithelial intercellular junctions formed by membrane and submembrane protein complexes), breakdown of desmosome-keratin intermediate filament attachment, and perinuclear aggregates of keratin intermediate filaments. (medscape.com)
  • Among them, inducing mutp53 degradation is the most straightforward strategy for disease treatment in eukaryotes, but proteasomes do not efficiently degrade certain large proteins or aggregates due to the inability of these factors to enter the narrow cavity of the proteasome 16 . (researchsquare.com)
  • Macroautophagy (hereafter referred to as autophagy), an independent protein degradation pathway, involves the phagocytosis of long cyclins and protein aggregates in the cytoplasm into autophagosomes for subsequent lysosomal degradation 17-19 . (researchsquare.com)
  • Our study was the first to systematically characterize and index these mutant proteins for comparison with the symptoms in human patients. (missouri.edu)
  • In fact, "studies in induced pluripotent stem cells in Huntington disease models have demonstrated that multiple molecular processes are altered by the mutant HTT protein and suggested its silencing as a promising therapeutic strategy," researchers wrote. (huntington.cl)
  • For example, the cell translates the mutant RNA into proteins that also turn out to be toxic. (illinois.edu)
  • An important debate in understanding ALS pathogenesis is whether mutant SOD1 causes cell death from loss of its normal function or from gaining some toxic function. (sens.org)
  • Recently, ALS researchers have been leaning towards the gain of toxic function hypothesis. (sens.org)
  • Through a series of experiments, the researchers revealed that the motor nerve cells use C9ORF72 protein to build lysosomes-which are cellular compartments used to engulf and break down toxic proteins and other garbage. (neurodegenerationresearch.eu)
  • Finding these novel RAN proteins in degenerated areas of the brain that were negative for the previously known mutant Huntington protein was crucial to linking them to the disease, said Monica BaƱez-Coronel, Ph.D., a postdoctoral associate and the first author of the journal article. (ufl.edu)
  • Miller, also co-director of the School of Medicine's ALS Center, first began searching for therapies for ALS as a postdoctoral researcher two decades ago. (sflorg.com)
  • We have to get to the bottom of why these junk proteins accumulate in the brain and we need to figure out how to block that process," Ranum said. (ufl.edu)
  • However, researchers found that this DNA repeat mutation can undergo a process known as repeat associated non-ATG (RAN) translation, producing four additional damaging repeat proteins that accumulate in the brain. (ufl.edu)
  • In addition to finding that the RAN proteins accumulate in the striatum, a specific brain region predominantly affected in Huntington disease, researchers also found them in the frontal cortex, cerebellum and white matter regions of the brain. (ufl.edu)
  • Plant intracellular nucleotide binding and leucine-rich repeat proteins (NB-LRR, NLRs) function as immune receptors to detect microbial pathogens directly or indirectly. (ubc.ca)
  • Li says finding an antibody that prefers to bind mutant, aggregated protein could also prove useful in the study of other neurodegenerative disorders, such as Alzheimer's disease or Creutzfeldt-Jakob disease. (scienceblog.com)
  • When mutant DMPK is converted into RNA in a first step of protein production, the repeated sequences in the RNA cause it to bind to another protein, MBNL, which regulates RNA processing. (illinois.edu)
  • Two, they bind to the mutant RNA and prevent it from attaching to the regulatory protein, MBNL. (illinois.edu)
  • To identify chemical compounds that can bind to myocilin carrying a disease-causing mutation Y437H, Lee and colleagues will make use of a new screening system called the Corning EPICĀ®, which will allow them to measure binding between compounds and Y437H mutant myocilin proteins. (brightfocus.org)
  • For one thing, the scientists realized that the enzyme doesn?t release its product - the Ras protein attached to the farnesyl molecule - until another substrate molecule arrives to bind to FTase. (scienceblog.com)
  • In this case, they were designed to bind to the desired protein, establishing a connection between fluorescence intensity and target protein production. (titech.ac.jp)
  • Here, we constructed an HPV16 E7 mutant that loses the ability to bind pRb while still eliciting a robust immune response. (bvsalud.org)
  • The 113insArg mutant p16(INK4a) was unable to bind cdk4 and cdk6 in an in vitro binding assay. (lu.se)
  • Mutant DMPK genes often continue to expand, amplifying the health problems that can result. (illinois.edu)
  • The presentation entitled: 'Chromatin Conformation Signatures Associated with Epigenetic Deregulation of the FIP1L1 and PDGFRA Genes,' focused on the technical application of its EpiSwitchā„¢ platform based on observation published in Nature by the researchers from Massachusetts General Hospital, Harvard Medical School, Broad Institute of MIT and Harvard and the Howard Hughes Medical Institute (Flavahan et al. (biospace.com)
  • The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
  • To do so, the researchers first performed a phylogenetic analysis of the TPC genes in the green plant lineage. (sciencedaily.com)
  • By CRISPR-Cas9 genome editing, the researchers developed mutant plants that didn't contain functional TPC1, TPC2, or TPC3 genes and double mutant plants that lack functions of both TPC2 and TPC3 genes. (sciencedaily.com)
  • MMR genes normally produce proteins that identify and correct sequence mismatches that may occur during DNA replication. (medscape.com)
  • To understand the gene's function in the brain, the researchers performed a series of experiments on mice that were genetically engineered to carry an identical mutation in the mouse version of NPSR1. (eurekalert.org)
  • Mice with the mutation spent less time sleeping and were more physically active than those without it, in part because, at the biochemical level, the mutant version of NPSR1 behaves differently from the more common version of the protein. (eurekalert.org)
  • To test whether the mutant and non-mutant versions of NPSR1 were able to activate components of this pathway to the same degree, the researchers injected a compound that triggers NPSR1 into both normal and genetically-engineered mice. (eurekalert.org)
  • Injecting the virus into the brains of mice that make mutant huntingtin improves their ability to move their limbs, although it does not prolong their lives. (scienceblog.com)
  • Although other researchers have shown that various intrabodies can protect cells from mutant huntingtin, the Emory team was the first to examine the effects of an intrabody in living mice, says senior author Xiao-Jiang Li, PhD, professor of human genetics at Emory University School of Medicine. (scienceblog.com)
  • Even though the intrabody only travels within the cytoplasm, it still alleviated the motor problems of mice that make mutant huntingtin when injected into the striatum, the scientists found. (scienceblog.com)
  • The research reported in Nature , led by Manuela Pellegrini, Ph.D., and Arkady Celeste, Ph.D., of NCI's Experimental Immunology Branch, shows that addition of a mutant version of the ATM protein (Atm-S1987A) that is unable to autophosphorylate can restore normal function to mice lacking ATM. (nih.gov)
  • Mice with the Atm-S1987A mutant protein appear normal and do not have the defects that are observed in mice without ATM. (nih.gov)
  • The researchers attribute the rescue of ATM-deficient mice to the ability of the Atm-S1987A mutant protein to function normally without autophosphorylation. (nih.gov)
  • In a study in mice, researchers showed that BHB, a compound produced while eating a ketogenic diet, may slow or stop colorectal cancer from growing. (cancer.gov)
  • Mice that begin expressing a mutant version of a protein called neurexin at 2 weeks of age develop autism-like behaviors that researchers can erase weeks or months later. (spectrumnews.org)
  • In a study published January 11, 2019 in Nature Communications , researchers showed that blocking a particular set of signals from these cells causes female (but not male) mice to build extraordinarily strong bones and maintain them into old age, raising hopes for new approaches to preventing or treating osteoporosis in older women. (medicalxpress.com)
  • We gave young mice antibiotics for just a week, and we saw a permanent change in their gut microbiomes, their immune responses, and how much neurodegeneration related to a protein called tau they experienced with age," says senior author David M. Holtzman, a professor of neurology at Washington University School of Medicine in St. Louis. (futurity.org)
  • To determine whether the gut microbiome may be playing a causal role, the researchers altered the gut microbiomes of mice predisposed to develop Alzheimer's-like brain damage and cognitive impairment. (futurity.org)
  • The protective effects of the microbiome shifts were more pronounced in male mice carrying the APOE3 variant than in those with the high-risk APOE4 variant, possibly because the deleterious effects of APOE4 canceled out some of the protection, the researchers say. (futurity.org)
  • Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so-called "jobs" of the proteins and networks and how they might be impacted by the huntingtin mutation. (buckinstitute.org)
  • This tutorial reviews these methods to guide researchers in answering the following questions: When I analyze mean differences in factorial designs, where can I find the effects of central interest, and what can I learn about their effect sizes? (lu.se)
  • The cells represent a potential resource to investigate the function of the huntingtin protein in vitro (in a lab culture dish or test tube). (huntington.cl)
  • And three, they chop up the mutant RNA, a process that is slow but appears to be effective in in vitro experiments. (illinois.edu)
  • If we understand the protein species forming during the early stages of disease conversion, we can propose new therapies for disease detection before the symptoms appear," he adds. (sciencedaily.com)
  • The researchers believe this latest discovery may one day lead to a druggable target for therapies that improve sleep and treat sleep disorders. (eurekalert.org)
  • In addition to the possibility of new therapies, detecting these proteins may be useful for predicting the disease's onset, its progression and treatment responses, researchers said. (ufl.edu)
  • Small-molecule CFTR modulators that directly target the mutant protein are powerful therapies that will likely benefit 90 percent of people with cystic fibrosis in the near future. (cff.org)
  • Now, a study published in Communications Biology by researchers at the Federal University of Rio de Janeiro, Brazil, and the University of Virginia School of Medicine, USA, may help to clarify that puzzle. (sciencedaily.com)
  • To perform the study, the researchers used cutting-edge bioimaging techniques. (sciencedaily.com)
  • In a new study, researchers report they have added new capabilities to an experimental drug agent that previously defeated only one of DM1's many modes of action. (illinois.edu)
  • Using the information provided by the NEJM study, we recreated the mutated proteins that cause the disorder in a test tube and conducted detailed biochemical analyses. (missouri.edu)
  • This provided a tool for the other researchers in the group to study colocalization of various mutated proteins with stress granules to further our understanding of ALS and identify possible therapeutic targets. (sens.org)
  • I used live imaging to study fluorescently tagged synaptic proteins in a sod-1 loss of function model and a wild-type model. (sens.org)
  • Sun exposure, but not vitamin D, was negatively correlated with multiple sclerosis risk in blacks and Hispanics, reported researchers with the Kaiser Permanente Southern California MS Sunshine Study. (medpagetoday.com)
  • The original study identified epigenetic changes that occurred in gliomas with mutant IDH1 protein. (biospace.com)
  • The study identified a mutant mouse lacking the Schnurri-2 protein (Shn-2 KO) that exhibits behavioral deficits and other brain features consistent with schizophrenia. (neurosciencenews.com)
  • A new study finds that microglia with mutant TREM2 protein reduce brain circuit connections, promote inflammation, and contribute to Alzheimer's pathology in other ways. (mit.edu)
  • The study was led by Associate Professor Tetsuya Kitaguchi from Tokyo Institute of Technology (Tokyo Tech), Japan, and was conducted in collaboration with Ajinomoto Co., Inc. The innovative method, which combines microfluidics and versatile biosensing to quickly identify enhanced bacterial strains that produce the highest amount of a desired protein, is reported in their study published in the journal Small on April 24, 2023. (titech.ac.jp)
  • In a recent study, a team of researchers led by Prof. Kazuyuki Kuchitsu from Tokyo University of Science, Japan, collaborated with researchers from Maria Curie-Sklodowska University, Poland, to explore the evolutionary and physiological significance of two-pore channels in the non-flowering bryophyte Marchantia polymorpha. (sciencedaily.com)
  • In fact, a recent study carried out by Massachusetts researchers found that more than 90 percent of medications can trigger allergic reactions in people on account of their inactive ingredients. (pharmaceuticalfraud.com)
  • Other Buck Institute researchers contributing to the study include Cendrine Tourette, Biao Li, and Shannon O'Hare. (buckinstitute.org)
  • The fact that levels of mutant huntingtin were reduced in correlation to the dose of Ionis-HTTRx that was given is significant, and the fact that participants in this first Phase 1/2a study are able to continue on the drug through open label extension gives us optimism regarding its safety," HDSA President and CEO Louise Vetter said in a statement. (medscape.com)
  • High-throughput robotic genetic technologies can be used to study the fitness of many thousands of genetic mutant strains of yeast, and the resulting data can be used to identify novel genetic interactions relevant to a target area of biology. (lu.se)
  • For HD, "now we are seeing some evidence for being able to directly target the mutant Huntingtin (mHTT) allele. (medscape.com)
  • It controls the activity of many proteins in a cell by transferring phosphate chemical groups to these proteins. (nih.gov)
  • Subsequently, activated ATM then migrates to sites of DNA damage and phosphorylates other proteins that are necessary for halting the cell cycle and repairing DNA damage. (nih.gov)
  • We applied time-independent component analysis (tICA) and protein connectivity network model, on all-atom molecular dynamics trajectories, to identify key non-RBD residues, playing crucial role in the conformational transition facilitating spike-receptor binding and infection of human cell. (biorxiv.org)
  • The researchers tested the mutant CARD11 proteins in other cell lines and found that the proteins spontaneously activated the NF-kB signaling pathway, thereby promoting the survival of malignant cells. (nih.gov)
  • When a cell is under stress, proteins and mRNAs that are not essential for survival are clumped into stress granules, allowing the cell to devote its resources to surviving the stress. (sens.org)
  • They found novel proteins that were abundant in areas of patients' brains that showed cell death, neuronal loss and other signs of disease, including neuroinflammation. (ufl.edu)
  • Suspecting that the disease works differently in humans, the researchers developed a cell-based human system for their research. (neurodegenerationresearch.eu)
  • The researchers created cell lines that completely lacked the HTT protein. (neurodegenerationresearch.eu)
  • Dynamin 2 also clings to microtubules of the mitotic spindle, and the team next wants to determine whether the protein regulates microtubule dynamics during the cell cycle. (rupress.org)
  • Using molecular genetic techniques, the Liu lab put green florescent markers inside C. elegans M lineage cells so that the researchers could track each cell as the developing worms went through cell division. (cornell.edu)
  • but they also discovered that cells inherit regulatory proteins from their mother cell. (cornell.edu)
  • We identified a number of these regulatory proteins that tell the mother cell how to divide, how many times to divide, and when to stop dividing and become a muscle cell or a non-muscle cell," Liu says. (cornell.edu)
  • We identified a number of these regulatory proteins that tell the mother cell how to divide, how many times to divide, and when to stop dividing and become a muscle cell or a non-muscle cell. (cornell.edu)
  • While the researchers were studying cell differentiation in the worms, they accidentally cued in to a new area of research. (cornell.edu)
  • In a fully functional signaling pathway like BMP, a signaling cell sends out a protein that binds to receptors on responding cells and transduces the signal to other proteins inside the cell. (cornell.edu)
  • In addition, the researchers will test the binding candidates in trabecular meshwork cell cultures that have POAG-related symptoms caused by the Y437H myocilin mutant proteins. (brightfocus.org)
  • In a majority of Crohn's disease patients, this protein functions improperly and allows toxins easier access to the cell. (labcanada.com)
  • Ellipsis Biotherapeutics is currently investigating the mutant protein's effects on cell function to with the eventual goal of developing of therapeutics. (labcanada.com)
  • FTase works as a cellular seamstress, connecting a fatty farnesyl molecule to newly built protein enzymes when they emerge from the cell?s production machinery. (scienceblog.com)
  • an example is the cell?s protein-making machinery. (scienceblog.com)
  • This technology is mainly recommended for the generation of humanized models and several mutants using the same parental ES cell clone . (genoway.com)
  • Using the same parental cell clone, we can then readily generate other mutant models, ultimately saving the client time and money . (genoway.com)
  • These unique mutant cell lines may then be used to create unique mutant mouse lines. (genoway.com)
  • Because multiple mutant cell and mouse lines can be created from one parental ES clonal line, RMCE is cost effective and reliable. (genoway.com)
  • The damage caused by the mutant huntingtin protein radiates out through the cell, like a pebble dropped in a pond. (buckinstitute.org)
  • In this case, the pond is filled with proteins that make up much of the cell," said Hughes. (buckinstitute.org)
  • Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. (medlineplus.gov)
  • The investigators found that the resultant transfected cells showed defects in ATP2A2 protein expression (15 mutants), ATP hydrolysis (29 mutants), calcium transport (4 mutants), and calcium binding and kinetics (3 mutants). (medscape.com)
  • Dr Lucet said SgK223 was a member of a family of proteins called pseudokinases and had been classified for a long time as a 'dead' enzyme. (edu.au)
  • Research has shown that when DNA damage occurs, a key enzyme - called ataxia telangiectasia mutated protein, or ATM - becomes activated. (nih.gov)
  • 1 , 2 Largely expressed on the surface of SARS-CoV-2, the spike (S) protein plays a crucial role in binding to the host angiotensin-converting enzyme 2 (ACE2) through the receptor-binding domain (RBD) and facilitating viral entry, 3 , 4 which is therefore considered as one of the most preferred targets against SARS-CoV-2. (biorxiv.org)
  • The researchers, funded by the MRC and the Wellcome Trust, have worked out how the unique enzyme - PPKL phosphatase - controls the development of the parasite at an essential stage for transmission. (nottingham.ac.uk)
  • By removing this enzyme other proteins fail to work properly and the resulting mutant has the wrong shape to burrow through the stomach wall of the female Anopheles mosquito and pass on the disease to humans. (nottingham.ac.uk)
  • Researchers have detailed the functioning of an enzyme that is a central component of a signaling pathway important for about 30 percent of cancers. (scienceblog.com)
  • Ten years ago, Casey and other researchers discovered that among the enzymes that FTase flags to trigger into action is the notorious cancer-causing enzyme Ras. (scienceblog.com)
  • Thus, pharmaceutical companies including Schering-Plough, Bristol Myers-Squibb and a subsidiary of Johnson & Johnson are now testing drugs that jam FTase to block the function of mutant Ras proteins and other substrates of the enzyme that are important in uncontrolled growth. (scienceblog.com)
  • We are also determining the structure of other class III RNRs which have overall activity regulation (the T4 enzyme does not), as well as of mutants of the T4 RNR which affect the catalytic mechanism and the allosteric regulation. (lu.se)
  • They identified a mutant worm with a defective protein that affects the dorsal-ventral asymmetry of the M lineage. (cornell.edu)
  • It is inherited as an autosomal dominant syndrome as a result of defective mismatch repair (MMR) proteins. (medscape.com)
  • They then looked at proteins downstream from NPSR1 to see how many of them had been chemically modified to promote activation. (eurekalert.org)
  • They found that mutant NPSR1 activated many more downstream proteins than the non-mutant version. (eurekalert.org)
  • Native or wild-type quaternary protein structure is usually born from a single translated protein sequence with one ordered conformation with downstream protein interactions. (medscape.com)
  • University of Nottingham Malaria experts have found a way of disabling one of the many phosphatase proteins which breathe life into the malaria parasite. (nottingham.ac.uk)
  • Importantly, PTPN23 mutant protein was shown to have reduced phosphatase activity. (edu.sa)
  • Therefore, the mutant Atm-S1987A protein exhibits normal phosphorylation activity and is sufficient to trigger an efficient response to radiation. (nih.gov)
  • Once ATM is recruited to the double-stranded DNA break, lots of other proteins also relocate to the same site for phosphorylation. (nih.gov)
  • By a broad mass spectrometry based approach on whole cells we are in the process of identifying additional such proteins and their phosphorylation status. (lu.se)
  • Autophagy receptors are endowed with the ability to both recognize the ubiquitination signals of cargoes by binding the ubiquitin-binding domain (UBD) and interact with the ATG8/LC3/GABARAP protein on the autophagosome membrane, relying on their LC3-binding region (LIR), which is followed by the delivery of cytoplasmic cargo to the incipient autophagosome for engulfment and ultimately lysosomal degradation 20-22 . (researchsquare.com)
  • The researchers also found that the three TPC proteins were primarily localized at the vacuolar membrane of M. polymorpha. (sciencedaily.com)
  • Moreover, they observed that the filaments have distinct structures depending on the protein mutation from which they originate. (sciencedaily.com)
  • To understand how this happens, the researchers extracted blood from ALS patients carrying the C9ORF72 mutation, and reprogrammed these blood cells into the motor nerve cells that degenerate and die in the disease. (neurodegenerationresearch.eu)
  • The researchers also found that blocking normal dynamin 2 with RNAi had the same effect as the mutation, confirming that one of dynamin 2's functions is to promote microtubule turnover. (rupress.org)
  • Researchers believe this mutation causes too many "bone-growth signals" to be sent, leading to beefier bones and a potential superhero. (listverse.com)
  • As SARS-CoV-2 replicates, changes in its genome (often called a mutation) can occur, and some result in a change in an amino acid that makes up a viral protein. (medlineplus.gov)
  • Our goal here was to create a tool that could distinguish between the accumulation of mutant proteins in the nucleus and the cytoplasm," he says. (scienceblog.com)
  • A new class of therapeutic agents called pharmacological chaperones has recently emerged to treat protein misfolding disorders, which are diseases caused by the presence or accumulation of misfolded proteins. (brightfocus.org)
  • Li and his colleagues showed that cultured cells that make both the intrabody and mutant huntingtin are able to get rid of the mutant protein faster and have fewer clumps of huntingtin. (scienceblog.com)
  • Large scale screening of therapeutic molecules and antibodies are underway aiming to target the spike protein and consequently prevent infection. (biorxiv.org)
  • Research areas Through programs spanning genetics, biology, and therapeutic development, Broad researchers are making discoveries that drive biomedical science forward. (broadinstitute.org)
  • These mutants not only lead to cancer progression due to loss of wild-type p53 activity but also enhanced oncogenic functions (gain-of-function (GOF)), including enhanced tumorigenesis, invasion, metastasis and resistance to therapeutic drugs 12, 13 . (researchsquare.com)
  • In order to build a therapeutic DNA vaccine, the E7 mutant was packaged in an adenovirus vector (Ad-E7) for efficient expression and enhanced immunogenicity of the vaccine. (bvsalud.org)
  • ATP2A2, located on 12q23-24.1, encodes the sarcoplasmic/endoplasmic reticulum Ca 2+ -ATP isoform 2 protein (SERCA2), which is a calcium pump. (medscape.com)
  • SUSA2 encodes an F-box protein Actin-Related Protein 8 (ARP8) and SUSA3 encodes the chaperone protein HSP90.3. (ubc.ca)
  • When bound by the mutant RNA, MBNL cannot function properly, causing a cascade of problems in protein production, Zimmerman said. (illinois.edu)
  • And the mutant RNA interferes with the function of other proteins besides MBNL. (illinois.edu)
  • [ 7 ] Thus, diverse biochemical mechanisms are responsible for altered protein function. (medscape.com)
  • She and her fellow researchers are now working on the development of a chemical that would alter the protein to restore its normal function. (labcanada.com)
  • However, very little is known about the function of TPC proteins in non-flowering mosses and liverworts-some of the oldest organisms on Earth. (sciencedaily.com)
  • ATM is a protein that functions to maintain the stability of DNA. (nih.gov)
  • Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood. (medlineplus.gov)
  • The researchers also found evidence of which protein species are important for the amyloid filaments growth. (sciencedaily.com)
  • The researchers then performed a complementary experiment and found that mutant NPSR1 is easier to trigger than the non-mutant version of the protein. (eurekalert.org)
  • But the disease has other means of creating havoc in cells, researchers have since found. (illinois.edu)
  • CARD11 abnormally stimulates a molecular pathway called the NF-kB signaling pathway in the ABC subtype, NCI researchers found, but not in a more easily treated subtype. (nih.gov)
  • Researchers have found that smoking causes chromosomal damage and speeds up aging. (medicaldaily.com)
  • Although happiness may vary between people based on personal experiences, the researchers found that life satisfaction - one of the factors that determines happiness - decreases after the age of nine and increases between the ages of 70 and 96. (medicaldaily.com)
  • By breaking up the Golgi apparatus and then watching the fragments reunite, the researchers found that dynamin 2 was essential for the capture step, not for transportation. (rupress.org)
  • Now, researchers have found the missing pieces of evolutionary history of two-pore channels in a species of liverwort. (sciencedaily.com)
  • The researchers found that 93 percent of all medications contain allergens such as lactose, peanut oil and dyes. (pharmaceuticalfraud.com)
  • 5 It suggests a strong possibility of generating new strains of this coronavirus and its family with higher virulence and more complicated epidemiology with a D614G mutant as a notable example. (biorxiv.org)
  • A unique method to screen large-scale libraries for industrially useful bacterial strains was recently developed by Tokyo Tech researchers. (titech.ac.jp)
  • The simple approach combines biosensors and microfluidics to quickly identify mutant strains that secrete large amounts of industrially useful proteins, opening the doors to more applications, like reasonably priced biopharmaceuticals. (titech.ac.jp)
  • Nonetheless, the traditional method of genetically engineering bacterial strains for high protein production is extremely time consuming. (titech.ac.jp)
  • This is because it relies on introducing genetic modifications in individual strains and evaluating the effectiveness of protein production. (titech.ac.jp)
  • As an alternative, researchers sometimes rely on screening of large-scale libraries for identifying strains which secrete a high amount of protein. (titech.ac.jp)
  • This enables the extraction of only those strains that are the best at producing the desired protein. (titech.ac.jp)
  • In addition, the team also devised a clever protocol for sorting the mutant strains based on their performance (Figure 1). (titech.ac.jp)
  • The plot shows a comparison of the amount of the desired protein produced between 24 randomly picked strains before sorting and 24 strains picked from the top 50 performers. (titech.ac.jp)
  • Let's start with a drug-inducible system for protein stabilization. (the-scientist.com)
  • Before forming such filaments, proteins undergo an intermediate stage, the oligomers, which are also present in the brains of Parkinson's patients. (sciencedaily.com)
  • The immune system may modulate disease progression in patients with amyotrophic lateral sclerosis , according to Australian researchers. (medpagetoday.com)
  • In the cerebellum - a part of the brain at the back of the skull that controls movement and motor coordination - the discovery of RAN proteins suggests that they may be responsible for some of the typical uncontrolled movements observed in Huntington disease patients, researchers said. (ufl.edu)
  • The most potent compounds the researchers developed reduce levels of the mutant RNA in cells that replicate the pathology of DM1. (illinois.edu)
  • 1 Noting the lack of regulatory systems that act at the protein (as opposed to the nucleic acid) level, Stanford University researcher Tom Wandless, who says he likes to "invent new tools for biology," created his own. (the-scientist.com)
  • RanGAP1 in turn helps move molecules through nuclear pores that serve as passageways in the nucleus, letting proteins and genetic material flow in and out of it. (hopkinsmedicine.org)
  • At the time Miller began studying SOD1 ALS, scientists were just beginning to explore a new technology for reducing disease-causing proteins using modified DNA molecules known as antisense oligonucleotides. (sflorg.com)
  • Such molecules interfere with the genetic instructions for building proteins and can be designed to target specific problematic proteins such as SOD1. (sflorg.com)
  • The six-month phase 3 trial of tofersen - known as the VALOR trial - showed that the drug reduces levels of SOD1 and also neurofilament light protein, a molecular marker of neurological damage. (sflorg.com)
  • So far, we don't know which species cause the symptoms and toxicity to cells," explains the lead author of the research Guilherme A. P. de Oliveira, researcher at the University of Virginia and professor at the UFRJ. (sciencedaily.com)
  • We have every reason to believe that if we can treat early to reduce production of the mutant protein that we should be able to produce really meaningful delays in the onset of symptoms. (dw.com)
  • When it's activated, it switches on other proteins in the same pathway by attaching a chemical modification to them. (eurekalert.org)
  • The Ionis Pharmaceuticals drug IONIS-HTTRx managed to reduce the level of the mutant huntingtin protein during the trial and researchers were excited to discover that these reductions were "dose-dependent. (dw.com)
  • The signaling pathways activated by the oncogenic mutants are to some extent unique and different from wild-type receptor signaling. (lu.se)
  • Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries. (broadinstitute.org)
  • Buck researchers established an unprecedented large-scale interaction network for the huntingtin protein identifying 2,141 highly interconnected proteins that have over 3,200 interactions among them. (buckinstitute.org)
  • Further characterization showed that susa2-2 only suppresses the autoimmunity mediated by either CHS1-SOC3 or TN2-SOC3 paired NLR proteins, indicating that SUSA2 is specifically involved in NLR protein SOC3-mediated immunity. (ubc.ca)
  • But mutants that lacked either functional TPC2, TPC3, or both, exhibited usual SV channel activity. (sciencedaily.com)
  • Mooney added, "Understanding and characterizing potentially functional HD protein interactions gives scientists new tools to connect genomic, genetic, proteomic and other molecular changes to identify the causes of this deadly disease. (buckinstitute.org)
  • Most NLRs guard host proteins that are the direct targets of pathogen effectors. (ubc.ca)
  • First, they used a fluorescent probe that allowed them to visualize each protein association step over time. (sciencedaily.com)
  • The Q-bodies are designed to become fluorescent upon binding to a target protein. (titech.ac.jp)
  • Tagging these proteins with a fluorescent marker, they studied their localization in M. polymorpha cells. (sciencedaily.com)
  • This trial builds on concepts from trials for a number of other neurodegenerative diseases to directly target the known 'bad player' proteins in those diseases," he told Medscape Medical News . (medscape.com)
  • Conversely, broad spectrum therapeutics like drugs and monoclonal antibodies can be generated targeting these key distant regions of the spike protein. (biorxiv.org)
  • This new technique essentially allows investigators to use small molecules to regulate the expression levels of any protein of interest," Wandless writes in an E-mail. (the-scientist.com)
  • Molecules such as phosphatidylinositol-3,5-bisphosphate and nicotinic acid adenine dinucleotide phosphate, that activate the TPCs of mammalian cells, failed to affect the ion channel activity in isolated vacuoles of the mutant plants. (sciencedaily.com)
  • Previous studies by researchers at NIH's National Cancer Institute (NCI) showed that the malignant cells of the hard-to-treat ABC subtype rely on a series of molecular events involving a protein called CARD11. (nih.gov)
  • These enzymes perform the same chemical reaction as the human protein involved in the newly identified inherited disease and share many other similarities. (missouri.edu)
  • Somos un grupo de personas, que en nuestras familias o gente cercana, se ha presentado la enfermedad de Huntington. (huntington.cl)
  • We now know that there are more players in the disease arena and it is likely that each one of these proteins contribute to Huntington disease," BaƱez-Coronel said. (ufl.edu)
  • Effects of mutant huntingtin inactivation on Huntington disease-related behaviours in the BACHD mouse model. (lu.se)
  • Further experiments showed that Ingraham and Correa's mutant animals maintained their enhanced bone density well into old age. (medicalxpress.com)
  • Occupational exposure limits with proteins such as topoisomerase inhibitors, and mitotic and meiotic spindle poisons. (cdc.gov)
  • Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
  • This was a surprise to the researchers because these RAN proteins are made without a signal in the genetic code that was previously thought to be required for protein production. (ufl.edu)