grant
Characterizing EZH1 Gain of function mutations to understand neurodevelopmental disease and inform EZH1-inhibitor innovation
Organization UNIVERSITY OF PENNSYLVANIALocation PHILADELPHIA, UNITED STATESPosted 6 Aug 2025Deadline 5 Aug 2028
NIHUS FederalResearch GrantFY202521+ years oldActive Follow-upAdultAdult HumanAutoregulationBiologic ModelsBiological ModelsBody TissuesBrainBrain Nervous SystemCUT&RUNCalciumCatalytic CoreCatalytic DomainCatalytic RegionCatalytic SiteCatalytic SubunitCell LineCellLineCharacteristicsChildren's HospitalChromatinCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseCognitiveCommunicationComplexCoupledDNA mutationDefectDevelopmentDevelopmental DelayDevelopmental Delay DisordersDiagnosticDiseaseDisorderDown-RegulationDrugsE3 LigaseE3 Ubiquitin LigaseENX-1EZH1EZH2EZH2 geneEncephalonEnhancer of Zeste 2 Polycomb Repressive Complex 2 SubunitEnhancersEnsureEnvironmentExperimental DesignsFaceGene Down-RegulationGene InactivationGene SilencingGeneHomologGenesGeneticGenetic ChangeGenetic TechnicsGenetic TechniquesGenetic defectGenetic mutationGluesGlutamatesHeterozygoteHistone H3HomeostasisHomologHomologous GeneHomologueImageImaging ProceduresImaging TechnicsImaging TechniquesIndividualIntellectual disabilityIntellectual functioning disabilityIntellectual limitationKMT6KMT6AKnowledgeL-GlutamateL-LysineLeadLinkLysineMaintenanceMedicationMethodologyMethylationMissense MutationModel SystemModelingMolecularMorphologyMotorMutationNerve CellsNerve UnitNeural CellNeurocyteNeurodevelopmental DisorderNeurological Development DisorderNeuronal DifferentiationNeuronal DysfunctionNeuronsNeurosciencesOrganoidsPathogenesisPathogenicityPatientsPb elementPediatric HospitalsPennsylvaniaPersonal SatisfactionPharmaceutical PreparationsPhenotypePhiladelphiaPhysiological HomeostasisPlayPolycombPositionPositioning AttributeProcessProteinsPublic HealthQOLQuality of lifeRNA SeqRNA sequencingRNAseqReceptor ActivationRegulationReproducibilityResearchResearch ResourcesResourcesSpecific Child Development DisordersSpecificityStrains Cell LinesSymptomsSynapsesSynapticTestingTherapeuticTissuesToxic effectToxicitiesTrainingTranscription RepressionUbiquitilationUbiquitin Protein LigaseUbiquitin-Protein Ligase ComplexesUbiquitin-Protein Ligase E3UbiquitinationUbiquitinoylationUniversitiesWorkactive followupadulthoodalternative treatmentbrain abnormalitiescandidate identificationcultured cell linedesigndesigningdevelopmentaldrug/agenteffective therapyeffective treatmentexperimentexperimental researchexperimental studyexperimentsfacesfacialfollow upfollow-upfollowed upfollowupgain of functiongain of function mutationgene repressiongenome mutationglutamatergicheavy metal Pbheavy metal leadheterozygosityhuman derived pluripotent stem cellhuman pluripotent stem cellimagingimprovedin silicoinhibitorinnovateinnovationinnovativeinsightintellectual and developmental disabilitylimited intellectual functioningmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantneural dysfunctionneurodevelopmental diseaseneuron developmentneuronalneuronal developmentnovelpostnatalprematureprematurityprofessorprogenitor cell modelprogenitor modelsmall moleculestem and progenitor cell modelstem cell based modelstem cell derived modelstem cell modelsynapsetherapeutic agent developmenttherapeutic developmenttranscriptional silencingtranscriptome sequencingtranscriptomic sequencingtranscriptomicstreatment strategyubiquinationubiquitin conjugationubiquitin-protein ligasewell-beingwellbeing
Description preview
PROJECT SUMMARY/ABSTRACT:
Neurodevelopmental disorders (NDDs) represent a diverse array of conditions characterized by abnormal
brain development and function which cause motor, cognitive, and communicative deficits that greatly impact a
patient’s quality of life. However, many underlying disease mechanisms are still unknown, resulting in a…
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