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
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
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