{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Davis BA"],"funding":["NIMH NIH HHS"],"pagination":["662-675"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10858293"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["95(7)"],"pubmed_abstract":["Background
Genetic variation in the TCF4 (transcription factor 4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of autism spectrum disorder called Pitt-Hopkins syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed during cortical development and in animal models has been shown to regulate various aspects of neuronal development and function. However, our understanding of how disease-causing mutations in TCF4 confer pathophysiology in a human context is lacking.Methods
To model PTHS, we differentiated human cortical neurons from human induced pluripotent stem cells that were derived from patients with PTHS and neurotypical individuals. To identify pathophysio"],"journal":["Biological psychiatry"],"pubmed_title":["TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons."],"pmcid":["PMC10858293"],"funding_grant_id":["R56 MH104593","T32 MH015330","R01 MH110487","R01 MH097949"],"pubmed_authors":["Panchwagh NM","Tippani M","Shim G","Li M","Ye Z","Luikart BW","Martin JM","Moses RL","Maher BJ","Das D","Davis BA","Chen HY","Sripathy SR","Farinelli F","Jaffe AE","Wang Y","Bohlen JF","Ostlund I"],"additional_accession":[]},"is_claimable":false,"name":"TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.","description":"Background
Genetic variation in the TCF4 (transcription factor 4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of autism spectrum disorder called Pitt-Hopkins syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed during cortical development and in animal models has been shown to regulate various aspects of neuronal development and function. However, our understanding of how disease-causing mutations in TCF4 confer pathophysiology in a human context is lacking.Methods
To model PTHS, we differentiated human cortical neurons from human induced pluripotent stem cells that were derived from patients with PTHS and neurotypical individuals. To identify pathophysio","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2025-07-05T03:04:51.387Z","creation":"2025-07-05T03:04:51.387Z"},"accession":"S-EPMC10858293","cross_references":{"pubmed":["37573005"],"doi":["10.1016/j.biopsych.2023.07.021"]}}