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Article

TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.

Biological psychiatry - 1 Apr 2024

Davis Brittany A, Chen Huei-Ying, Ye Zengyou, Ostlund Isaac, Tippani Madhavi, Das Debamitra, Sripathy Srinidhi Rao, Wang Yanhong, Martin Jacqueline M, Shim Gina, Panchwagh Neel M, Moses Rebecca L, Farinelli Federica, Bohlen Joseph F, Li Meijie, Luikart Bryan W, Jaffe Andrew E, Maher Brady J

Abstract excerpt

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...

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Identifiers

PMID: 37573005
DOI: 10.1016/j.biopsych.2023.07.021
PMCID: PMC10858293

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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