2011
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Wang X, McCoy PA, Rodriguiz RM, Pan Y, Je HS, Roberts AC, Kim CJ, Berrios J, Colvin JS, Bousquet-Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, Beaudet AL, Wetsel WC, Jiang YH. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics 2011, 20: 3093-3108. PMID: 21558424, PMCID: PMC3131048, DOI: 10.1093/hmg/ddr212.Peer-Reviewed Original ResearchConceptsPostsynaptic densityMajor clinical featuresHomer1b/cRole of Shank3Activity-dependent redistributionAutism spectrum disorderLong-term potentiationHuman ASD patientsSynaptic scaffolding proteinsHomozygous mutant miceClinical featuresMajor isoformsSynaptic dysfunctionAbnormal social behaviorCA1 hippocampusMale miceCognitive dysfunctionSynaptic transmissionExcitatory synapsesDendritic spinesMotor coordinationAMPA receptorsBehavioral abnormalitiesSHANK3 mutationsSevere impairment
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