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Elucidating the origins of cortical tuber cells using human brain organoid models of TSC
Organization UNIVERSITY OF CALIFORNIA BERKELEYLocation BERKELEY, UNITED STATESPosted 15 May 2016Deadline 28 Feb 2026 ⚠️
NIHUS FederalResearch GrantFY20253-D3-Dimensional3DASDAffectAstrocytesAstrocytusAstrogliaAutismAutistic DisorderAutomobile DrivingAutophagocytosisBehavioralBinding ProteinsBiologic ModelsBiological ModelsBody SystemBourneville DiseaseBourneville PhakomatosisBourneville syndromeBourneville-Brissaud diseaseBourneville-Pringle syndromeBrainBrain Nervous SystemCRISPR interferenceCRISPR-dCas9-mediated repressionCRISPR/dCas9 interferenceCRISPR/dCas9-mediated transcriptional inhibitionCRISPRiCalciumCandidate Disease GeneCandidate GeneCare GiversCaregiversCell BodyCell Communication and SignalingCell DifferentiationCell Differentiation processCell LineCell LineageCell SignalingCellLineCellsClustered Regularly Interspaced Short Palindromic Repeats interferenceCognitive DisturbanceCognitive ImpairmentCognitive declineCognitive function abnormalComplexCortical MalformationDNA mutationDevelopmentDiseaseDisorderDisturbance in cognitionDysfunctionEarly Infantile AutismEmbryo DevelopmentEmbryogenesisEmbryonic DevelopmentEncephalonEngineeringEpilepsyEpileptic SeizuresEpilepticsEpiloiaFK506 Binding Protein 12-Rapamycin Associated Protein 1FKBP12 Rapamycin Complex Associated Protein 1FRAP1FRAP1 geneFRAP2Functional disorderGene ProteinsGene TranscriptionGenerationsGenesGeneticGenetic ChangeGenetic EngineeringGenetic Engineering BiotechnologyGenetic Engineering Molecular BiologyGenetic TranscriptionGenetic defectGenetic mutationGenome engineeringGliaGlial CellsGoalsGrantGuide RNAHamartinHigh PrevalenceHumanHyperactivityImageImpaired cognitionImpairmentIndividualInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntracellular Communication and SignalingKanner's SyndromeKnock-inKolliker's reticulumLeadLigand Binding ProteinLigand Binding Protein GeneMechanistic Target of RapamycinModel SystemModelingModern ManMolecularMutationNerve CellsNerve UnitNervous System DiseasesNervous System DisorderNeural CellNeural Stem CellNeurocyteNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurologicNeurologic DisordersNeurologicalNeurological Development DisorderNeurological DisordersNeuronsNon-neuronal cellNonneuronal cellOperative ProceduresOperative Surgical ProceduresOrgan SystemOrganoidsOutcomePathologyPathway interactionsPatient ObservationPb elementPhenotypePhysiopathologyPringle diseaseProductionProtein BindingProtein Gene ProductsRAFT1RNA ExpressionRecombinant DNA TechnologyRoleSamplingSeizure DisorderSeizuresSignal TransductionSignal Transduction SystemsSignalingSliceStrains Cell LinesSurgicalSurgical InterventionsSurgical ProcedureSystemTSC1TSC1 geneTSC1/2TSC1/2 geneTSC1/TSC2TSC2TSC2 geneTSC2/TSC1TSC4TSC4 GeneTestingTranscriptionTuberinTuberous SclerosisWatchful Waitingabnormal brain functionadenoma sebaceumarmastrocytic gliaautism spectral disorderautism spectrum disorderautistic spectrum disorderautophagybiological signal transductionbound proteinbrain cellbrain dysfunctionbrain impairmentcell cortexcell engineeringcell typecellular developmentcellular differentiationcellular engineeringcerebral sclerosisclinical relevanceclinically relevantcognitive dysfunctioncognitive losscortical tuberscultured cell linedesigndesigningdevelopmentaldevelopmental diseasedevelopmental disorderdisease-in-a-dishdrivingdysfunctional brainearly onsetepilepsiaepileptogenicepiploiaexperimentexperimental researchexperimental studyexperimentsgRNAgenetically engineeredgenome mutationheavy metal Pbheavy metal leadhereditary multiple system hamartomatosishuman progenitorhuman stem cellsimagingimprovedinsightintellectual and developmental disabilityknockinlimited intellectual functioningloss of function mutationmTORmammalian target of rapamycinmulti-electrode arraysmultielectrode arraysmutantnerve cementnerve stem cellneural networkneural precursorneural precursor cellneural progenitorneural progenitor cellsneural stem and progenitor cellsneurinomatosis centralisneurodevelopmental diseaseneurogenesisneurogenic progenitorsneurogenic stem cellneurological diseaseneuromatosis universalisneuron progenitorsneuronalneuronal progenitorneuronal progenitor cellsneuronal stem cellsneuronal survivalneuroprogenitorneurospongioblastosis diffusanewborn neuronpathophysiologypathwaypatient variabilitypatient variationphacomatosispharmacologicprematureprematuritypreventpreventingprogenitor and neural stem cellsprogenitor cell differentiationprogenitor differentiationprogramsrepressing CRISPR-dCas9 systemsclerosis tuberosashRNAshort hairpin RNAsmall hairpin RNAsocial rolespongioblastosis circumscriptastem and progenitor differentiationstem cell differentiationsurgerythree dimensionaltuberose sclerosistuberous sclerosis 1tuberous sclerosis complexvariability between patientsvariation between patients
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Description preview
PROJECT SUMMARY
Tuberous Sclerosis Complex (TSC) is a multi-system developmental disorder caused by mutations in
the TSC1 or TSC2 genes. The protein products of these genes form a complex that is an essential negative
regulator of mTORC1 signaling. In the absence of a functional TSC1/2 complex, mTORC1 signaling is
deregulated and constitutively…
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