grant
Investigating mitochondrial dysfunction in human astrocytes with RTT-causing MECP2 mutations
Organization STATE UNIVERSITY NEW YORK STONY BROOKLocation STONY BROOK, UNITED STATESPosted 5 May 2024Deadline 30 Apr 2029
NIHUS FederalResearch GrantFY2025AccelerationAffectAssayAstrocytesAstrocytusAstrogliaAutoregulationBioassayBiologicalBiological AssayBrainBrain Nervous SystemCUT&RUNCell AgingCell SenescenceCell Senescence InductionCellular AgingCellular SenescenceCerebroatrophic HyperammonemiaCharacteristicsChromatinCitric Acid CycleCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseDNA mutationDataDefectDevelopmentDiseaseDisorderEncephalonEnergy ExpenditureEnergy MetabolismExploratory/Developmental Grant for Diagnostic Cancer ImagingGene ExpressionGene Expression MonitoringGene Expression Pattern AnalysisGene Expression ProfilingGene TranscriptionGenesGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGliaGlial CellsGlutamatesHomeostasisHumanHypoxiaHypoxicImpairmentKnowledgeKolliker's reticulumKrebs CycleL-GlutamateLinkMeCP-2 proteinMeCP2MeCP2 proteinMediatingMetabolicMethyl CpG binding protein MeCP2Methyl-CpG-Binding Protein 2Methyl-DNA binding protein MECP2MiceMice MammalsMitochondriaModelingModern ManMolecularMorphologyMurineMusMutationNational Institutes of HealthNerve CellsNerve UnitNervous System DiseasesNervous System DisorderNervous System PhysiologyNeural CellNeurocyteNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurologic DisordersNeurologic functionNeurological Development DisorderNeurological DisordersNeurological functionNeuronal DysfunctionNeuronsNon-neuronal cellNonneuronal cellOxidative StressOxygen ConsumptionOxygen DeficiencyPathway interactionsPatientsPhenotypePhysiological HomeostasisPhysiologyPredispositionPropertyPyruvateR21 AwardRNA ExpressionRNA SeqRNA sequencingRNAseqReplicative SenescenceRett DisorderRett SyndromeRoleStructureSusceptibilityTCA cycleTherapeuticTherapeutic InterventionTranscript Expression AnalysesTranscript Expression AnalysisTranscriptionTricarboxylic Acid CycleUnited States National Institutes of Healthanalyze gene expressionastrocytic gliabiologiccell typecellular aging inductioncellular senescence inductiondevelopmentaldifferential expressiondifferentially expressedgene expression analysisgene expression assaygenome mutationglutamatergichuman derived modelhuman derived systemhuman like modelhuman like platformhuman like systemhuman progenitorhuman specific modelhuman specific systemhuman stem cellshuman-based biological modelshuman-based modelhuman-based nonanimal modelshuman-based platformhuman-based researchhuman-based systemhuman-based toolshuman-focused researchiPSiPSCiPSCsinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinhibitorintervention therapymitochondrialmitochondrial dysfunctionmitochondrial metabolismmouse modelmurine modelmutantnerve cementnervous system functionneural dysfunctionneurodevelopmental diseaseneurological diseaseneuronalneuropathologicneuropathologicalneuropathologyneuropsychiatric diseaseneuropsychiatric disorderpathwayprogenitor cell modelprogenitor modelreplicative agingrestorationsenescencesenescence inductionsenescentsenescent cellsocial rolestem and progenitor cell modelstem cell based modelstem cell derived modelstem cell modeltargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic agent developmenttherapeutic developmenttranscriptional differencestranscriptional profilingtranscriptome sequencingtranscriptomic sequencinguptake
Description preview
Summary
Mutations in the X-linked gene, methyl-CpG binding protein 2 (MECP2), underlie a wide range of
neuropsychiatric disorders, most commonly Rett syndrome (RTT), a severe neurodevelopmental disorder.
Despite numerous studies, why the loss of MeCP2 function results in RTT remains largely obscure, and it
represents a major challenge from both…
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