grant
Investigating the Molecular and Cellular Basis of RNA Exosome-linked Pontocerebellar Hypoplasia Type1b in Human 3D Brain Organoids
Organization UNIVERSITY OF SOUTHERN CALIFORNIALocation Los Angeles, UNITED STATESPosted 4 Aug 2025Deadline 21 Jul 2028
NIHUS FederalResearch GrantFY20253-D3-Dimensional3DAddressAffectAllelesAllelomorphsAssayAtrophicAtrophyAutoregulationBUdRBioassayBiologicalBiological AssayBiotechBiotechnologyBloodBlood Reticuloendothelial SystemBody TissuesBrainBrain DiseasesBrain DisordersBrain Nervous SystemBrain StemBrain regionBrainstemBrdUBromodeoxyuridineBromouracil DeoxyribosideBroxuridineCRISPRCRISPR/Cas systemCatalytic CoreCatalytic DomainCatalytic RegionCatalytic SiteCatalytic SubunitCell BodyCell DifferentiationCell Differentiation processCell LineageCell NucleusCellsCerebellumClinicalClustered Regularly Interspaced Short Palindromic RepeatsComplexCytoplasmDNA mutationDataDefectDevelopmentDiseaseDisorderES cellEncephalonEncephalon DiseasesEngineeringEnsureEquilibriumEventFutureGene Action RegulationGene ExpressionGene Expression MonitoringGene Expression Pattern AnalysisGene Expression ProfilingGene Expression RegulationGene RegulationGene Regulation ProcessGene TranscriptionGenesGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGenotypeGliaGlial CellsHeterogeneityHomeostasisHumanHuman EngineeringHuman FigureHuman bodyImageIntracranial CNS DisordersIntracranial Central Nervous System DisordersInvestigatorsKolliker's reticulumLabelLinkMR ImagingMR TomographyMRIMRIsMagnetic Resonance ImagingMediatingMedical Imaging, Magnetic Resonance / Nuclear Magnetic ResonanceMissense MutationModelingModern ManMolecularMutationNMR ImagingNMR TomographyNerve CellsNerve UnitNervous SystemNeural CellNeural Stem CellNeurocyteNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurologicNeurologic Body SystemNeurologic Organ SystemNeurologicalNeurological Development DisorderNeuronal DifferentiationNeuronsNon-Polyadenylated RNANon-neuronal cellNonneuronal cellNuclear Magnetic Resonance ImagingNucleusOrganoidsPathogenesisPathogenicityPathologyPhenotypePhysiologic pulsePhysiological HomeostasisPlayPontocerebellar hypoplasiaPost-Transcriptional ControlPost-Transcriptional RegulationProcessProgenitor CellsPulseQuality ControlRNARNA DecayRNA DegradationRNA ExpressionRNA Gene ProductsRNA ProcessingRNA chemical synthesisRNA synthesisRegulatory ProteinResearchResearch PersonnelResearchersRibonucleic AcidRibosomal RNARoleSeveritiesShapesSkinSpecific qualifier valueSpecifiedStructureSynapsesSynapticTestingTissuesTrainingTranscriptTranscript Expression AnalysesTranscript Expression AnalysisTranscriptionWorkZeugmatographyadult progenitoradult stem cellanalyze gene expressionbalancebalance functionbiologiccareercell typecellular differentiationcompare to controlcomparison controldesigndesigningdevelopmentaldisease causing variantdisease modeldisease-causing alleledisease-causing mutationdisorder modelembryo derived stem cellembryonal stem cellsembryonic progenitorembryonic stem cellexosomegene expression analysisgene expression assaygenetic regulatory proteingenome mutationglobal gene expressionglobal transcription profilehiPSChuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellshuman modelimaginginduced human pluripotent stem cellsinsightmRNA Expressionmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmodel of humanmulti-electrode arraysmultielectrode arraysmutantnerve cementnerve stem cellneuralneural precursorneural precursor cellneural progenitorneural progenitor cellsneural stem and progenitor cellsneurodevelopmental diseaseneurogenesisneurogenic progenitorsneurogenic stem cellneuron developmentneuron progenitorsneuronalneuronal developmentneuronal progenitorneuronal progenitor cellsneuronal stem cellsneuroprogenitornovelpathogenic allelepathogenic variantpost-transcriptional gene regulationposttranscriptionalprogenitor and neural stem cellsprogenitor cell differentiationprogenitor cell modelprogenitor cell proliferationprogenitor differentiationprogenitor modelprogenitor proliferationprogramsprotein complexrRNAregulatory gene productscRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsocial rolesomatic progenitorsomatic stem cellstem and progenitor cell modelstem and progenitor cell proliferationstem and progenitor differentiationstem cell based modelstem cell derived modelstem cell differentiationstem cell modelstem cell of embryonic originstem cell proliferationstem cellssynapsethree dimensionaltranscriptional profilingtranscriptometranscriptomics
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PROJECT SUMMARY
The diversity of neuronal cell types within the mammalian brain is derived from neural stem cells that sequentially
express specific transcriptional programs. Control of gene expression programs is critically important for proper
neural stem cell differentiation and subtype specification, which consists of many regulatory…
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