grant
Molecular basis of ASNA1 cardiomyopathy
Organization UNIVERSITY OF CALIFORNIA, SAN DIEGOLocation LA JOLLA, UNITED STATESPosted 1 Apr 2024Deadline 31 Mar 2028
NIHUS FederalResearch GrantFY202621+ years oldATP phosphohydrolaseATPaseAblationAddressAdenosine TriphosphataseAdultAdult HumanAllelesAllelomorphsApoptosisApoptosis PathwayArsenitesAutophagocytosisBindingBiogenesisBiologyBody TissuesCardiacCardiac AbnormalitiesCardiac Muscle CellsCardiac MyocytesCardiac developmentCardiocyteCardiomyopathiesCell membraneCellular MembraneCessation of lifeChaperoneChildhoodComplexCongestive CardiomyopathyCytoplasmic MembraneDNA mutationDeathDefectDevelopmentDilatationDilatation - actionDilated CardiomyopathyEmbryoEmbryonicEndoplasmic ReticulumErgastoplasmExhibitsGeneHomologGenetic ChangeGenetic defectGenetic mutationGoalsGolgiGolgi ApparatusGolgi ComplexHeartHeart AbnormalitiesHeart Muscle CellsHeart myocyteHeterozygoteHomologHomologous GeneHomologueHumanHydrophobicityImpairmentIndividualIntegral Membrane ProteinIntrinsic Membrane ProteinKO miceKnock-inKnock-out MiceKnockout MiceKnowledgeLeadLeannessLoxP-flanked alleleMediatingMembraneMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsMiceMice MammalsMissense MutationModelingModern ManMolecularMolecular ChaperonesMolecular InteractionMorphogenesisMurineMusMutant Strains MiceMutationMyocardial DiseasesMyocardial DisorderMyocardiopathiesMyocardiumNonsense MutationNuclear EnvelopeNuclear MembraneNull MouseOrigin of LifeOuter Mitochondrial MembranePathway interactionsPatientsPb elementPerinatal MortalitiesPerinatal lethalityPerinatal mortality demographicsPhenotypePhysiologicPhysiologicalPlasma MembranePlayProcessProgrammed Cell DeathProtein FamilyProteinsProteomeQuality ControlReceptor ProteinRoleSGT geneSGT proteinSGTASGTA geneSmall Glutamine-Rich Tetratricopepetide Repeat-Containing ProteinSmall Glutamine-Rich Tetratricopeptide Repeat-Containing Protein, AlphaStructureSurface ProteinsTM DomainTailThinnessTissuesTransgenic MiceTransmembrane DomainTransmembrane ProteinTransmembrane Protein GeneTransmembrane RegionVentricularadipogenesisadulthoodautophagycardiac functioncardiac musclecardiac myocytes differentiated from induced pluripotent stem cellcardiogenesiscardiomyocyteclinical relevanceclinically relevantdevelopmentalfloxedfloxed allelefunction of the heartgene manipulationgene nullgenetic manipulationgenetically manipulategenetically perturbgenome mutationheart developmentheart formationheart functionheart muscleheavy metal Pbheavy metal leadheterozygosityhiPSChuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellsiPS cell derived cardiomyocytesiPSC derived cardiomyocytesinduced human pluripotent stem cellsinduced pluripotent stem cell derived cardiac myocytesinduced pluripotent stem cell derived cardiomyocytesinducible pluripotent stem cell derived cardiac myocytesinducible pluripotent stem cells derived cardiomyocytesinfancyinfantileinsightknockinlipid biosynthesislipogenesisloss of functionmembrane structuremissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmorphogenetic processmouse modelmouse mutantmurine modelmyocardium diseasemyocardium disordernew drug targetnew druggable targetnew pharmacotherapy targetnew therapeutic targetnew therapy targetnon-sense mutationnovelnovel drug targetnovel druggable targetnovel pharmacotherapy targetnovel therapeutic targetnovel therapy targetnull mutationpathwaypediatricperinatal deathsplasmalemmapostnatalreceptorsocial roletrafficking
Description preview
PROJECT SUMMARY
Post-translational targeting and insertion of tail-anchored (TA) proteins into the endoplasmic reticulum (ER)
membrane is a process mediated by the conserved transmembrane domain recognition complex (TRC)/guided
entry of TA protein (GET) pathway. Cooperating with the chaperone SGTA and the TRC35-UBL4A-BAG6 pre-
targeting complex,…
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