grant
Investigating the roles of UBE3A and TRPML1 in extracellular vesicle regulation to understand Angelman syndrome pathogenesis
Organization WESTERN UNIVERSITY OF HEALTH SCIENCESLocation POMONA, UNITED STATESPosted 1 Aug 2014Deadline 30 Jun 2028
NIHUS FederalResearch GrantFY202521+ years oldASDAdolescentAdolescent YouthAdultAdult HumanAffectAmmon HornAngelman SyndromeAutismAutistic DisorderAutoregulationBindingBiological MarkersBrainBrain Nervous SystemBrain regionCationsCell FunctionCell PhysiologyCell ProcessCell to Cell Communication and SignalingCell-Cell SignalingCellular FunctionCellular PhysiologyCellular ProcessClinicalCognitive DisturbanceCognitive ImpairmentCognitive declineCognitive function abnormalComplexCornu AmmonisDNA mutationDendritesDendritic SpinesDevelopmentDevelopmental DelayDevelopmental Delay DisordersDiseaseDisorderDisturbance in cognitionE6APEarly Infantile AutismEncephalonEpilepsyEpileptic SeizuresEpilepticsFore-BrainForebrainGanglioside Sialidase Deficiency DiseaseGene InactivationGene SilencingGenesGeneticGenetic ChangeGenetic defectGenetic mutationGenomicsHappy Puppet SyndromeHealthHippocampusHomeostasisImpaired cognitionImpairmentInfantile AutismKanner's SyndromeLearningLinkLysosomesMediatingMemoryMiceMice MammalsMolecular InteractionMorphologyMucolipidosis IVMucolipidosis Type IVMurineMusMutationNerve CellsNerve UnitNervous System DiseasesNervous System DisorderNeural CellNeurocyteNeurodevelopmental DisorderNeurologic DisordersNeurological Development DisorderNeurological DisordersNeuronsOutcomePathogenesisPatientsPhysiological HomeostasisPlayPositionPositioning AttributeProcessProsencephalonProteinsPuppet ChildrenRegulationResearchRiskRoleSeizure DisorderSpecific Child Development DisordersSubcellular ProcessSymptomsSynapsesSynapticSynaptic plasticitySynaptosomesTestingTherapeuticUBE3AUBE3A geneUbiquitin-Protein Ligase E3AWild Type Mouseabnormal brain functionadulthoodautism spectral disorderautism spectrum disorderautistic spectrum disorderbio-markersbiologic markerbiomarkerbrain dysfunctionbrain impairmentco-morbidco-morbiditycognitive dysfunctioncognitive losscomorbiditydendrite spinedevelopmentaldysfunctional brainepilepsiaepileptogenicextracellular vesiclesgain of function mutationgenome mutationhippocampalimprintimprovedinnovateinnovationinnovativeintercellular communicationjuvenilejuvenile humanlanguage abilitylanguage skillslate endosomemotor diseasemotor disordermotor dysfunctionmouse modelmurine modelneurodevelopmental diseaseneurological diseaseneuron developmentneuronalneuronal developmentnew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapy approachesnew treatment approachnew treatment strategynovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapy approachoverexpressoverexpressionpostnatalpuppetlike syndromesocial rolesynapsesynaptoneurosometooltraffickingtranscriptional silencingvesicle releasevesicular releasewildtype mouse
Description preview
Brain development is a complex process involving intricate molecular interactions, which lead to
alterations at the synaptic, neuronal, and circuit levels. Abnormalities in this process result in
various forms of neurodevelopmental disorders. Angelman syndrome (AS) is a rare
neurodevelopmental disorder with severe developmental delay, lack of…
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