{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(1)"],"submitter":["Chalkiadaki K"],"pubmed_abstract":["<h4>Background</h4>The polygenic nature of autism spectrum disorder (ASD) requires the identification of converging genetic pathways during early development to elucidate its complexity and varied manifestations.<h4>Methods</h4>We developed a human cerebral organoid model from induced pluripotent stem cells with targeted genome editing to abolish protein expression of the <i>CNTNAP2</i> ASD risk gene.<h4>Results</h4>CNTNAP2<sup>-/-</sup> cerebral organoids displayed accelerated cell cycle, ventricular zone disorganization, and increased cortical folding. Proteomic analysis revealed disruptions in glutamatergic/GABAergic (gamma-aminobutyric acidergic) synaptic pathways and neurodevelopment, and transcriptomic analysis revealed differentially expressed genes belonging to inhibitory neuron-re"],"journal":["Biological psychiatry global open science"],"pagination":["100413"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11699409"],"repository":["biostudies-literature"],"pubmed_title":["GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2<sup>-/-</sup> Cerebral Organoids."],"pmcid":["PMC11699409"],"pubmed_authors":["Chalkiadaki K","Moschovas D","Zafeiri M","Avgeropoulos A","Mason JO","Typou A","Theodoridou N","Samiotaki M","Voudouri G","Gkogkas CG","Statoulla E","Amvrosiadis T"],"additional_accession":[]},"is_claimable":false,"name":"GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2<sup>-/-</sup> Cerebral Organoids.","description":"<h4>Background</h4>The polygenic nature of autism spectrum disorder (ASD) requires the identification of converging genetic pathways during early development to elucidate its complexity and varied manifestations.<h4>Methods</h4>We developed a human cerebral organoid model from induced pluripotent stem cells with targeted genome editing to abolish protein expression of the <i>CNTNAP2</i> ASD risk gene.<h4>Results</h4>CNTNAP2<sup>-/-</sup> cerebral organoids displayed accelerated cell cycle, ventricular zone disorganization, and increased cortical folding. Proteomic analysis revealed disruptions in glutamatergic/GABAergic (gamma-aminobutyric acidergic) synaptic pathways and neurodevelopment, and transcriptomic analysis revealed differentially expressed genes belonging to inhibitory neuron-re","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-01T23:12:46.174Z","creation":"2026-05-23T03:08:04.582Z"},"accession":"S-EPMC11699409","cross_references":{"pubmed":["39758604"],"doi":["10.1016/j.bpsgos.2024.100413"]}}