2016
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome
Kim Y, Lee HM, Xiong Y, Sciaky N, Hulbert SW, Cao X, Everitt JI, Jin J, Roth BL, Jiang YH. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome. Nature Medicine 2016, 23: 213-222. PMID: 28024084, PMCID: PMC5589073, DOI: 10.1038/nm.4257.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternCell LineDisease Models, AnimalEnzyme InhibitorsEpigenesis, GeneticFemaleFibroblastsGene ExpressionGenomic ImprintingHistone CodeHistone-Lysine N-MethyltransferaseHumansImmunohistochemistryMaleMethylationMicePrader-Willi SyndromeQuinazolinesReverse Transcriptase Polymerase Chain ReactionRNA, Small NucleolarSnRNP Core ProteinsSurvival RateUbiquitin-Protein LigasesSHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons
Han Q, Kim YH, Wang X, Liu D, Zhang ZJ, Bey AL, Lay M, Chang W, Berta T, Zhang Y, Jiang YH, Ji RR. SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons. Neuron 2016, 92: 1279-1293. PMID: 27916453, PMCID: PMC5182147, DOI: 10.1016/j.neuron.2016.11.007.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBehavior, AnimalBlotting, WesternCapsaicinGanglia, SpinalHumansHyperalgesiaImmunohistochemistryInflammationMiceMice, KnockoutMicrofilament ProteinsNAV1.8 Voltage-Gated Sodium ChannelNerve Tissue ProteinsNeuralgiaPainPatch-Clamp TechniquesPresynaptic TerminalsReverse Transcriptase Polymerase Chain ReactionSensory Receptor CellsSensory System AgentsSpinal CordTRPV Cation ChannelsConceptsHeat hyperalgesiaSensory neuronsDRG neuronsMouse dorsal root ganglion sensory neuronsDorsal root ganglion sensory neuronsCapsaicin-induced spontaneous painAbnormal pain sensitivityHuman DRG neuronsPrimary sensory neuronsAutism spectrum disorderSpinal cord neuronsSpontaneous painTRPV1 signalingNeuropathic painPain sensitivityPeripheral mechanismsCord neuronsSHANK3 haploinsufficiencyTRPV1 functionPresynaptic terminalsSynaptic currentsPain deficitsSHANK3 deficiencyInward currentsSHANK3 expression
2009
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end
2003
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome. Journal Of Neuroscience 2003, 23: 2634-2644. PMID: 12684449, PMCID: PMC6742065, DOI: 10.1523/jneurosci.23-07-02634.2003.Peer-Reviewed Original ResearchMeSH KeywordsAngelman SyndromeAnimalsCalcium-Calmodulin-Dependent Protein Kinase Type 2Calcium-Calmodulin-Dependent Protein KinasesCells, CulturedHippocampusImmunohistochemistryIntellectual DisabilityLigasesLong-Term PotentiationMiceMutationPhosphoprotein PhosphatasesPhosphorylationProtein KinasesSynapsesThreonineUbiquitin-Protein LigasesConceptsCalmodulin-dependent protein kinase IIProtein kinase IIKinase IIAngelman syndromeCalcium/calmodulin-dependent protein kinase IIMutant animalsMolecular basisMental retardation syndromeMolecular causesCaMKII activityLong-term potentiationCaMKIIPostsynaptic densityRetardation syndromeMouse modelMisregulationMutantsHippocampal long-term potentiationSevere mental retardationMental retardationContext-dependent learningCorresponding changes
1999
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
Cummings C, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr H, Beaudet A, Zoghbi H. Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice. Neuron 1999, 24: 879-892. PMID: 10624951, DOI: 10.1016/s0896-6273(00)81035-1.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxin-1AtaxinsCell NucleusCells, CulturedCysteine EndopeptidasesFluorescent Antibody TechniqueHeLa CellsHumansImmunoblottingImmunohistochemistryInclusion BodiesLigasesMiceMice, KnockoutMicroscopy, ConfocalMultienzyme ComplexesMutationNerve Tissue ProteinsNuclear ProteinsPeptidesPhenotypePlasmidsProteasome Endopeptidase ComplexPurkinje CellsSpinocerebellar DegenerationsUbiquitin-Protein LigasesUbiquitinsConceptsMutant ataxin-1Ataxin-1Spinocerebellar ataxia type 1Ataxin-1 aggregationUbiquitin-protein ligaseUbiquitin-positive nuclear inclusionsUbiquitin-proteasome pathwayNuclear inclusionsPolyglutamine proteinsProteasomal degradationProteasome distributionMutant formsSCA1 pathogenesisAtaxia type 1Patient neuronsPurkinje cell pathologySCA1 miceCell pathologyInclusion frequencyCellsLigasePurkinje cellsProtein