2018
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons
Xu Q, Liu YY, Wang X, Tan GH, Li HP, Hulbert SW, Li CY, Hu CC, Xiong ZQ, Xu X, Jiang YH. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Molecular Autism 2018, 9: 65. PMID: 30574290, PMCID: PMC6299922, DOI: 10.1186/s13229-018-0244-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutistic DisorderCells, CulturedCerebral CortexDNA-Binding ProteinsHumansMiceMice, Inbred C57BLNeurogenesisNeuronsConceptsCHD8 deficiencyNeuronal migrationChromodomain helicase DNAMouse brainChromatin structureTranscriptional regulatorsParvalbumin-positive neuronsHistone H1Autism spectrum disorderGenetic studiesCHD8Protein 8Functional consequencesNovel insightsBiochemical analysisContralateral cortexSitu hybridizationCortical neuronsCommon findingUtero electroporationGlia cellsNeuronal culturesAxon projectionsDeficiency impairsCircuit mechanismsEpigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders
Towers AJ, Tremblay MW, Chung L, Li XL, Bey AL, Zhang W, Cao X, Wang X, Wang P, Duffney LJ, Siecinski SK, Xu S, Kim Y, Kong X, Gregory S, Xie W, Jiang YH. Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders. JCI Insight 2018, 3: e120592. PMID: 30518695, PMCID: PMC6328031, DOI: 10.1172/jci.insight.120592.Peer-Reviewed Original ResearchEnvironmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder
Hulbert SW, Bey AL, Jiang Y. Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder. Brain And Behavior 2018, 8: e01107. PMID: 30317697, PMCID: PMC6236244, DOI: 10.1002/brb3.1107.Peer-Reviewed Original ResearchEarly Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 −/− Mice
Chung C, Ha S, Kang H, Lee J, Um SM, Yan H, Yoo YE, Yoo T, Jung H, Lee D, Lee E, Lee S, Kim J, Kim R, Kwon Y, Kim W, Kim H, Duffney L, Kim D, Mah W, Won H, Mo S, Kim JY, Lim CS, Kaang BK, Boeckers TM, Chung Y, Kim H, Jiang YH, Kim E. Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 −/− Mice. Biological Psychiatry 2018, 85: 534-543. PMID: 30466882, PMCID: PMC6420362, DOI: 10.1016/j.biopsych.2018.09.025.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSocial behaviorSpectrum disorderAutistic-like phenotypesLate pathophysiologyNMDAR hypofunctionHuman autism spectrum disorderNMDAR hyperfunctionN-methyl-D-aspartate (NMDA) receptor hypofunctionAutistic-like behaviorsNMDAR antagonist memantineAspartate Receptor FunctionEarly pathophysiologyPup stageEarly correctionAdult miceBehavioral analysisNMDAR dysfunctionPostnatal day 21Receptor hypofunctionChronic suppressionAnimal studiesDay 21HypofunctionDisorders
2017
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model
Chung L, Bey AL, Towers AJ, Cao X, Kim IH, Jiang YH. Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. Neurobiology Of Disease 2017, 110: 12-19. PMID: 29097328, PMCID: PMC5903876, DOI: 10.1016/j.nbd.2017.10.016.Peer-Reviewed Original ResearchConceptsEpileptiform activityMouse modelAngelman syndrome modelFragile X syndrome mouse modelLower seizure thresholdSyndrome mouse modelNeural mechanismsAngelman syndromeSeizure thresholdSynaptic dysfunctionAudiogenic seizuresExcitatory neurotransmissionLocal circuitsSyndrome modelSeizuresUBE3ADrug screeningFXS modelsHyperexcitabilitySupDysfunctionEpilepsyNeurotransmissionSyndromeDissection
2016
The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling
Mansour M, Haupt S, Chan AL, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano EA, Bishton M, Johnstone C, Monahan B, Levav-Cohen Y, Jiang YH, Yap AS, Fox S, Bernard O, Anderson R, Haupt Y. The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling. Cancer Research 2016, 76: 4236-4248. PMID: 27231202, DOI: 10.1158/0008-5472.can-15-1553.Peer-Reviewed Original ResearchConceptsBreast cancer patientsPoor prognosisCancer patientsBreast cancerBreast cancer-related deathsSuppresses breast cancer metastasisMetastatic breast cancerCancer-related deathBreast cancer metastasisBasal breast cancerBreast cancer invasivenessSteroid hormone receptorsMetastatic diseaseCurrent therapiesSecondary tumorsTherapeutic approachesTumor cell migrationCancer metastasisPatientsCancer invasivenessHormone receptorsMetastasisMajor causeHigh expressionE3 ubiquitin protein ligase
2015
Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice
Chung L, Wang X, Zhu L, Towers AJ, Cao X, Kim IH, Jiang YH. Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice. Brain Research 2015, 1629: 340-350. PMID: 26474913, PMCID: PMC4744651, DOI: 10.1016/j.brainres.2015.10.015.Peer-Reviewed Original ResearchConceptsPrader-Willi syndromeClinical presentationClass ISynaptic transmissionExpression of CYFIP1Impaired synaptic transmissionRole of CYFIP1Breakpoint 2Severe clinical presentationLong-term depressionCued fear conditioningPaired-pulse facilitationZero-maze testHuman neuropsychiatric disordersClass II deletionsBreakpoints 1Neurological presentationAS patientsHippocampal CA1Deficient miceTerm depressionMaternal deficiencyPatientsHaploinsufficiency of Cyfip1Synaptic function
2013
Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome
Hayrapetyan V, Castro S, Sukharnikova T, Yu C, Cao X, Jiang YH, Yin HH. Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. European Journal Of Neuroscience 2013, 39: 1018-1025. PMID: 24329862, PMCID: PMC5937017, DOI: 10.1111/ejn.12442.Peer-Reviewed Original ResearchConceptsDorsolateral striatumDorsomedial striatumMouse modelAngelman syndromeWhole-cell patch-clamp recordingsMiniature excitatory postsynaptic currentsRegion-specific impairmentsStriatal synaptic transmissionExcitatory postsynaptic currentsBasal ganglia pathologyPatch-clamp recordingsDeficient mouse modelUbe3a deficiencyWild-type controlsGlutamatergic transmissionPostsynaptic currentsBasal gangliaSynaptic transmissionInput nucleusMaternal deficiencyMotor tremorCorticostriatal circuitsMutant miceStriatumMice
2012
E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis
Wolyniec K, Shortt J, de Stanchina E, Levav-Cohen Y, Alsheich-Bartok O, Louria-Hayon I, Corneille V, Kumar B, Woods S, Opat S, Johnstone R, Scott C, Segal D, Pandolfi P, Fox S, Strasser A, Jiang Y, Lowe S, Haupt S, Haupt Y. E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis. Blood 2012, 120: 822-832. PMID: 22689861, PMCID: PMC3709628, DOI: 10.1182/blood-2011-10-387647.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBurkitt LymphomaCell Line, TumorCell Transformation, NeoplasticCellular SenescenceHumansLymphoma, Large B-Cell, DiffuseMiceMice, Inbred C57BLMice, TransgenicNuclear ProteinsPromyelocytic Leukemia ProteinProteasome Endopeptidase ComplexProto-Oncogene Proteins c-mycTranscription FactorsTumor Suppressor ProteinsUbiquitinUbiquitin-Protein LigasesConceptsB-cell lymphomaB-cell lymphomagenesisCellular senescenceB-cell lymphoma developmentNon-Hodgkin lymphomaNovel therapeutic approachesB-cell lymphoma progressionHuman Burkitt lymphomaTumor-suppressive actionB lymphoma cellsTherapeutic approachesBurkitt's lymphomaLymphoma progressionSuppressive actionLymphoma developmentLymphomaConcurrent inductionE6AP ubiquitin ligasePML expressionElevated levelsE6AP expressionKey tumor suppressorPML nuclear bodiesNeoplastic transformationLymphomagenesis
2007
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation
van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila Freire R, Jiang YH, Elgersma Y, Weeber EJ. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation. Nature Neuroscience 2007, 10: 280-282. PMID: 17259980, DOI: 10.1038/nn1845.Peer-Reviewed Original ResearchMeSH KeywordsAngelman SyndromeAnimalsBehavior, AnimalCalcium-Calmodulin-Dependent Protein Kinase Type 2Conditioning, ClassicalDisease Models, AnimalExcitatory Postsynaptic PotentialsFemaleFreezing Reaction, CatalepticHippocampusIn Vitro TechniquesMaleMaze LearningMental DisordersMiceMice, Inbred C57BLMice, Neurologic MutantsMotor ActivityPhosphorylationPhosphotransferasesReaction TimeTime FactorsUbiquitin-Protein LigasesConceptsMouse modelAngelman syndromeAS mouse modelSevere neurological disordersNeurological deficitsMotor dysfunctionA miceBehavioral deficitsCellular deficitsNeurological disordersInhibitory phosphorylationMental retardationSyndromeDeficitsΑCaMKIIAdditional mutationsInhibitory phosphorylation sites
2003
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells
Tsai T, Bressler J, Jiang Y, Beaudet AL. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis 2003, 37: 151-161. PMID: 14666508, DOI: 10.1002/gene.10237.Peer-Reviewed Original ResearchConceptsPaternal alleleImprinting centerMaternal alleleSomatic mammalian cellsTrans-acting factorsActivation of expressionSNURF-SNRPN geneMouse ES cellsChromatin domainsGenomic imprintsImprinted domainMammalian cellsHomologous recombinationGene targetingHomologous associationES cellsComplete demethylationSNURF-SNRPNPrader-Willi syndromeExon 2AllelesGenesRecombinantsCellsDomain
2002
Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction
Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O’Malley B. Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction. Molecular And Cellular Biology 2002, 22: 525-535. PMID: 11756548, PMCID: PMC139730, DOI: 10.1128/mcb.22.2.525-535.2002.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDrug ResistanceFemaleFertilityGene ExpressionGrowthHistone AcetyltransferasesLigasesMaleMammary Glands, AnimalMiceMice, Inbred C57BLMice, KnockoutNuclear Receptor Coactivator 1Nuclear Receptor Coactivator 3PregnancyProstateReceptors, SteroidReproductionSteroidsTrans-ActivatorsTranscription FactorsUbiquitin-Protein LigasesConceptsSteroid hormone actionWild-type controlsHormone actionProstate gland growthFemale knockout miceSteroid hormone resistanceE6-APSex steroid actionSteroid receptor coactivatorVirgin mammary glandMammary gland developmentReceptor-dependent gene expressionFemale miceUterine growthHormone resistanceSteroid actionKnockout miceNull miceGland growthType 1Genetic ablationMammary glandReceptor coactivatorMiceGland development