grant
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease
Organization UNIVERSITY OF MICHIGAN AT ANN ARBORLocation ANN ARBOR, UNITED STATESPosted 1 Sept 2020Deadline 30 Jun 2030
NIHUS FederalResearch GrantFY2025AddressAffectAllelesAllelomorphsAmino AcidsAmino Acyl T RNA SynthetasesAmino Acyl-tRNA LigasesAmino Acyl-tRNA SynthetasesAminoacyl Transfer RNA SynthetaseAminoacyl-tRNA SynthetaseAreaAutoregulationBasic ResearchBasic ScienceBiochemicalBiologic ModelsBiological ModelsBiologyBody TissuesClosure by LigationComplementComplement ProteinsDataDiagnosisDiseaseDisorderEnzyme GeneEnzymesFamilyGenesGoalsHealthHereditary DiseaseHomeostasisHumanInborn Genetic DiseasesInherited disorderLigationMammalian CellMiceMice MammalsModel SystemModern ManMolecularMurineMusPathogenicityPatientsPhysiological HomeostasisPopulationProductionProteinsResearchRoleTissuesTransfer RNATransfer RNA AcylationTransfer RNA Amino AcylationTransfer RNA AminoacylationTransfer RNA ChargingTransfer RNA SynthetaseTriplet Codon-Amino Acid AdaptorVariantVariationYeastsaminoacidaminoacid tRNA ligaseclinical phenotypecomplementationdisease causing variantdisease phenotypedisease-causing alleledisease-causing mutationgene functionhereditary disorderheritable disorderhuman diseaseimprovedinborn errorinherited diseasesinherited genetic diseaseinherited genetic disorderinsightlab developmentlaboratory developmentloss of functionmembermolecular pathologypathogenic allelepathogenic variantprogramssocial roletRNAtRNA AcylationtRNA Amino AcylationtRNA AminoacylationtRNA ChargingtRNA Synthetasetherapeutically effectivetransfer Ribonucleic acids
Description preview
PROJECT ABSTRACT
Aminoacyl-tRNA synthetases (ARSs) are a ubiquitously expressed, essential class of enzymes responsible for
ligating amino acids to cognate tRNA molecules. Importantly, all 37 loci encoding an ARS have been
implicated in dominant and/or recessive clinical phenotypes, making these enzymes a major contributor to
human inherited…
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