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Understanding the roles of nuclear envelope proteins and DNA damage in cardiomyopathy
Organization UT SOUTHWESTERN MEDICAL CENTERLocation DALLAS, UNITED STATESPosted 15 Aug 2024Deadline 27 Aug 2025 ⚠️
NIHUS FederalResearch GrantFY2025Adaptor ProteinAdaptor Protein GeneAdaptor Signaling ProteinAdaptor Signaling Protein GeneAdeno-Associated VirusesAffectAmericanAreaAutomobile DrivingAutoregulationBinding ProteinsBioinformaticsCardiacCardiac DiseasesCardiac DisordersCardiac Muscle CellsCardiac MyocytesCardiocyteCardiomyopathiesCardiovascular DiseasesCause of DeathCell DifferentiationCell Differentiation processCell NucleusCessation of lifeChromatinChronicCodeCoding SystemCongestive CardiomyopathyCytoplasmDNADNA DamageDNA InjuryDNA TherapyDNA mutationDNA-Binding ProteinsDataDeathDeoxyribonucleic AcidDependoparvovirusDependovirusDeveloped CountriesDeveloping CountriesDeveloping NationsDevelopmentDilated CardiomyopathyDiseaseDisorderEnvelope ProteinEpidemiological dataEpidemiology dataExhibitsExtravasationFamilyGene ExpressionGene TranscriptionGene Transfer ClinicalGenesGenetic ChangeGenetic DiseasesGenetic InterventionGenetic TranscriptionGenetic defectGenetic mutationGenomeGenotypeGoalsGrantHeartHeart DiseasesHeart Muscle CellsHeart failureHeart myocyteHomeostasisHumanHuman GeneticsIn VitroIndustrialized CountriesIndustrialized NationsInflammatoryKI miceKO miceKnock-in MouseKnock-outKnock-out MiceKnockoutKnockout MiceKnowledgeLamin ALamin Type ALeakageLess-Developed CountriesLess-Developed NationsLigand Binding ProteinLigand Binding Protein GeneLinkMeasuresMechanical StressMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsMethodsMiceMice MammalsMissense MutationModelingModern ManMolecularMurineMusMutant Strains MiceMutationMyocardial DiseasesMyocardial DisorderMyocardiopathiesMyocardiumNuclear EnvelopeNuclear Inner MembraneNuclear MembraneNucleusNull MousePathogenesisPathologicPathway interactionsPerformancePhenotypePhysiological HomeostasisPlayPredispositionPrevalencePreventiveProcessProtein BindingPublishingRNA ExpressionRegulationReportingResearchRoleRuptureSingle-Nucleus SequencingSkeletal MuscleSpillageStimulator of Interferon GenesSurface ProteinsSusceptibilityTestingTherapeuticThird-World CountriesThird-World NationsTrainingTranscriptionTransmissionUnder-Developed CountriesUnder-Developed NationsVoluntary Muscleadapter proteinadeno associated virus groupbound proteincGAMP STINGcGAMP-STINGcGAMP/STINGcGAS/STINGcardiac failurecardiac functioncardiac musclecardiomyocytecardiovascular disordercellular differentiationcyclic GMP-AMP synthase/STINGdesigndesigningdeveloped countrydeveloped nationdeveloped nationsdeveloping countrydeveloping nationdevelopmentaldisabilitydrivingenv Antigensenv Gene Productsenv Polyproteinsenv Proteinepidemiologic dataexperimentexperimental researchexperimental studyexperimentsfamilial cardiomyopathyfunction of the heartgene repair therapygene therapygene-based therapygenetic cardiomyopathygenetic conditiongenetic disordergenetic therapygenome mutationgenomic therapyheart disorderheart functionheart musclehereditary cardiomyopathyhumanized micehumanized mouseiPSiPSCiPSCsimprovedin vivoinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinherited cardiomyopathyinsightknockin miceloss of functionmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmortalitymouse mutantmutantmyocardium diseasemyocardium disordernew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapy approachesnew treatment approachnew treatment strategynovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapy approachoverexpressoverexpressionpathwayprematureprematurityprogenitor cell modelprogenitor modelresponsesNuc-Seqsingle nucleus RNA-sequencingsingle nucleus seqsingle-nucleus RNA-seqsnRNA sequencingsnRNA-seqsocial rolestem and progenitor cell modelstem cell based modelstem cell derived modelstem cell modeltranscriptomicstransmission process
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Project Summary
Mutations in nuclear envelope proteins (NEPs) cause devastating genetic diseases, known as
envelopathies, which primarily affect the heart and skeletal muscle. The LEM domain nuclear envelope
protein 2 (LEMD2) is a ubiquitously expressed inner nuclear membrane protein. In vitro studies reported
that LEMD2 interacts with DNA-binding…
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