2024
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions
Gao Y, Shonai D, Trn M, Zhao J, Soderblom E, Garcia-Moreno S, Gersbach C, Wetsel W, Dawson G, Velmeshev D, Jiang Y, Sloofman L, Buxbaum J, Soderling S. Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions. Nature Communications 2024, 15: 6801. PMID: 39122707, PMCID: PMC11316102, DOI: 10.1038/s41467-024-51037-x.Peer-Reviewed Original ResearchConceptsSpatial proteomicsRisk genesHigh-confidence risk genesRegulation of expressionAutism risk genesGenetic interactionsProximity proteomicsHuman genesEndogenous proteomesProtein complexesCellular functionsNative proteomeProteomicsPhenotypic modifiersRisk allelesRelevant to autismGenesFunctional interactionsGenetic riskProteinMouse brainMouse model of autismCellular driversProximity interactionsMouse model
2019
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
Yang R, Walder-Christensen KK, Lalani S, Yan H, García-Prieto ID, Álvarez S, Fernández-Jaén A, Speltz L, Jiang YH, Bennett V. Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 19717-19726. PMID: 31451636, PMCID: PMC6765234, DOI: 10.1073/pnas.1909989116.Peer-Reviewed Original ResearchConceptsΒ4-spectrinAxon initial segmentC-terminal domainNormal neural developmentPrevents recruitmentGiant ankyrinNeural developmentConformational changesMissense mutationsMutationsPhosphorylationSegment assemblyRecruitmentMouse brainClose appositionCore mechanismDomainAssemblyAnkyrinClosed configurationIntermediate stageInitial segmentSitesProximal axons
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 ResearchConceptsCHD8 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 mechanisms
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