2010
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL. Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3. PLOS ONE 2010, 5: e12278. PMID: 20808828, PMCID: PMC2924885, DOI: 10.1371/journal.pone.0012278.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAngelman SyndromeAnimalsCerebral CortexChromosome DeletionDarknessDisease Models, AnimalExploratory BehaviorFemaleGene Expression RegulationHomozygoteMaleMembrane Transport ProteinsMemoryMiceMothersMotor ActivityReceptors, GABA-ASeizuresUbiquitin-Protein LigasesUltrasonicsVocalization, AnimalConceptsLarge maternal deletionsDeletion miceMutant miceMouse modelAngelman syndrome mouse modelAngelman syndromeSpontaneous seizure activityMaternal deletionAS mouse modelGABRB3 geneWild-type littermatesSyndrome mouse modelE6-AP ubiquitinLight-dark boxDeletion mutant miceUBE3A mutationsUniparental disomyElectroencephalography (EEG) abnormalitiesAS patientsAbnormal EEGSeizure activityMotor functionPerinatal periodBalance disordersPaternal uniparental disomy
2009
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neuroscience Letters 2009, 487: 129-133. PMID: 19563863, PMCID: PMC2888840, DOI: 10.1016/j.neulet.2009.06.079.Peer-Reviewed Original ResearchConceptsWild-type littermatesAngelman syndromeMaternal UBE3A alleleMitochondrial dysfunctionCA1 hippocampal neuronsSynaptic vesicle densityWhole brain mitochondriaDeficient mouse modelUbiquitin protein ligase E3ASevere neurological disordersAS miceHippocampal neuronsHippocampal regionMouse modelOxidative phosphorylationNeurological disordersBrain mitochondriaSyndromeMiceVesicle densityPathophysiologyDysfunctionDense mitochondriaLittermatesUBE3A