grant
Unique Role of ASPM in Development of Large and Folded Cerebral Cortex
Organization UNIVERSITY OF CONNECTICUT SCH OF MED/DNTLocation FARMINGTON, UNITED STATESPosted 7 Jul 2025Deadline 30 Jun 2030
NIHUS FederalResearch GrantFY2025AffectAnnexin A1Annexin IBindingBrain DiseasesBrain DisordersCAP43CMT4DCRISPR approachCRISPR based approachCRISPR methodCRISPR methodologyCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 technologyCalpactin IICas nuclease technologyCell BodyCell CycleCell DeathCell Division CycleCellsCentrosomeCerebral cortexCerebrumCessation of lifeChromobindin 9ClassificationClustered Regularly Interspaced Short Palindromic Repeats approachClustered Regularly Interspaced Short Palindromic Repeats methodClustered Regularly Interspaced Short Palindromic Repeats methodologyClustered Regularly Interspaced Short Palindromic Repeats techniqueClustered Regularly Interspaced Short Palindromic Repeats technologyDRG1DataDeathDefectDevelopmentDiseaseDisorderElectroporationEncephalon DiseasesEpilepsyEpileptic SeizuresEpilepticsFerretsGene TranscriptionGenesGenetic TranscriptionGerm LinesGliaGlial CellsGoalsHMSNLHealthHumanIntellectual disabilityIntellectual functioning disabilityIntellectual limitationInterphaseIntracranial CNS DisordersIntracranial Central Nervous System DisordersKO miceKnock-outKnock-out MiceKnockoutKnockout MiceKolliker's reticulumLabelLettersLinkLipocortin 1Lipocortin IMammaliaMammalsMediatingMediatorMiceMice MammalsMicro-tubuleMicrocephalyMicrotubule ProteinsMicrotubulesModern ManMolecularMolecular InteractionMurineMusNDR1NDRG1NDRG1 geneNMSLNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurological Development DisorderNon-neuronal cellNonneuronal cellNull MouseOperative ProceduresOperative Surgical ProceduresOrganoidsPROXY1PatternPhenotypePredispositionProgenitor CellsProteinsProteomeProteomicsQualifyingRNA ExpressionRadialRadiusRenocortinReportingResolutionRoleSeizure DisorderSurgicalSurgical InterventionsSurgical ProcedureSusceptibilitySystematicsTDD5TechniquesTestingTimeTissue PreservationTranscriptionVentricularcell typecerebraldevelopmentaldifferential expressiondifferentially expresseddisease modeldisorder modelelectroporative deliveryepilepsiaepileptogenicexperimentexperimental researchexperimental studyexperimentsgene electrotransferglobal gene expressionglobal transcription profilehuman progenitorhuman stem cellsiPSiPSCiPSCsin uteroinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellintellectual and developmental disabilityinterestinventionlimited intellectual functioningmicrencephalymicroencephalymouse modelmurine modelnecrocytosisnerve cementneurodevelopmental diseaseprematureprematurityprogenitorprogenitor cell proliferationprogenitor proliferationresolutionsscRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell analysissingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsocial rolespatial RNA sequencingspatial gene expression analysisspatial gene expression profilingspatial resolved transcriptome sequencingspatial transcriptome analysisspatial transcriptome profilingspatial transcriptome sequencingspatial transcriptomicsspatially resolved transcriptomicsspatio transcriptomicsstem and progenitor cell proliferationstem cell proliferationstem cellssurgerytranscriptional differencestranscriptometranscriptomics
Description preview
PROJECT SUMMARY/ABSTRACT
Neurodevelopmental disorders affecting the large and folded (gyrencephalic) human cerebral cortex require
disease mechanisms that are robust in humans but insignificant in mice. For example, loss of ASPM (assembly
factor for spindle microtubules) in humans causes severe microcephaly with 50-75% reduction in cortical…
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