{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chiola S"],"funding":["Alan B. Slifka Foundation","U.S. Department of Health &amp; Human Services | NIH | National Institute of Neurological Disorders and Stroke","Whitehall Foundation","NIMH NIH HHS","Brain Research Foundation","Brain and Behavior Research Foundation","NINDS NIH HHS","U.S. Department of Health &amp; Human Services | NIH | National Institute of Mental Health"],"pagination":["4670-4686"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8349370"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(9)"],"pubmed_abstract":["Genetic abnormalities in synaptic proteins are common in individuals with autism; however, our understanding of the cellular and molecular mechanisms disrupted by these abnormalities is limited. SHANK3 is a postsynaptic scaffolding protein of excitatory synapses that has been found mutated or deleted in most patients with 22q13 deletion syndrome and about 2% of individuals with idiopathic autism and intellectual disability. Here, we generated CRISPR/Cas9-engineered human pluripotent stem cells (PSCs) with complete hemizygous SHANK3 deletion (SHANK3<sup>+/-</sup>), which is the most common genetic abnormality in patients, and investigated the synaptic and morphological properties of SHANK3-deficient PSC-derived cortical neurons engrafted in the mouse prefrontal cortex. We show that human PS"],"journal":["Molecular psychiatry"],"pubmed_title":["Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex."],"pmcid":["PMC8349370"],"funding_grant_id":["NS104963-01A1","R01 MH113670","R21 NS104963","1R01MH113670 - 01A1"],"pubmed_authors":["Chiola S","Lazarenko RM","Shcheglovitov A","Napan KL","Cui J","Wang Y","Armstrong CJ"],"additional_accession":[]},"is_claimable":false,"name":"Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex.","description":"Genetic abnormalities in synaptic proteins are common in individuals with autism; however, our understanding of the cellular and molecular mechanisms disrupted by these abnormalities is limited. SHANK3 is a postsynaptic scaffolding protein of excitatory synapses that has been found mutated or deleted in most patients with 22q13 deletion syndrome and about 2% of individuals with idiopathic autism and intellectual disability. Here, we generated CRISPR/Cas9-engineered human pluripotent stem cells (PSCs) with complete hemizygous SHANK3 deletion (SHANK3<sup>+/-</sup>), which is the most common genetic abnormality in patients, and investigated the synaptic and morphological properties of SHANK3-deficient PSC-derived cortical neurons engrafted in the mouse prefrontal cortex. We show that human PS","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2025-04-19T06:41:26.483Z","creation":"2022-02-11T13:11:01.801Z"},"accession":"S-EPMC8349370","cross_references":{"pubmed":["33558651"],"doi":["10.1038/s41380-021-01023-2"]}}