2024
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest E, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang Y. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports 2024, 43: 114376. PMID: 38900637, PMCID: PMC11328446, DOI: 10.1016/j.celrep.2024.114376.Peer-Reviewed Original ResearchSHANK family genesFamily genesLong-read sequencingCDNA captureTranscript structureDeleterious variantsGenomic studiesAbundant mRNAsTranscriptional dysregulationStochastic transcriptionStudies of neuropsychiatric disordersCausative genesTranscriptional profilesTranscriptional determinantsTranscriptomePostmortem brain tissueAutism spectrum disorderShank3 transcriptsTranscriptionGenesGenomeSHANK3Neuropsychiatric disordersSpectrum disorderAutism model
2017
A Presynaptic Function of Shank Protein in Drosophila
Wu S, Gan G, Zhang Z, Sun J, Wang Q, Gao Z, Li M, Jin S, Huang J, Thomas U, Jiang YH, Li Y, Tian R, Zhang YQ. A Presynaptic Function of Shank Protein in Drosophila. Journal Of Neuroscience 2017, 37: 11592-11604. PMID: 29074576, PMCID: PMC6705749, DOI: 10.1523/jneurosci.0893-17.2017.Peer-Reviewed Original ResearchConceptsSynapse developmentMushroom bodiesPresynaptic functionHuman genetic studiesPostsynaptic densityPSD scaffold proteinsPeripheral neuromuscular junctionsNull mutantsMushroom body calyxScaffold proteinFamily genesFamily proteinsExpression analysisDevelopmental defectsShank proteinsGenetic studiesShank familyCalyx structureFunction mutationsOnly memberIdiopathic autism spectrum disorderSynaptic roleNovel insightsProteinDrosophila
2013
Modeling Autism by SHANK Gene Mutations in Mice
Jiang YH, Ehlers MD. Modeling Autism by SHANK Gene Mutations in Mice. Neuron 2013, 78: 8-27. PMID: 23583105, PMCID: PMC3659167, DOI: 10.1016/j.neuron.2013.03.016.Peer-Reviewed Original ResearchConceptsSHANK mutationsRecent human genetic studiesSHANK family genesHuman genetic studiesPostsynaptic densityPathophysiology of ASDProtein complexesConserved featuresFamily genesFamily proteinsGene productsDivergent phenotypesSame geneExcitatory glutamatergic synapsesMolecular diversityHuman autism spectrum disorderMouse mutantsMolecular geneticsGenetic studiesMouse phenotypeSynaptic dysfunctionIdiopathic autism spectrum disorderSuch mutationsCausative genesGenes