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Article

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models.

Translational psychiatry - 10 Jun 2024

Thibaudeau Amandine, Schmitt Karen, François Louise, Chatrousse Laure, Hoffmann David, Cousin Loic, Weiss Amélie, Vuidel Aurore, Jacob Christina B, Sommer Peter, Benchoua Alexandra, Wilbertz Johannes H

Abstract excerpt

Phelan-McDermid syndrome (PMDS) arises from mutations in the terminal region of chromosome 22q13, impacting the SHANK3 gene. The resulting deficiency of the postsynaptic density scaffolding protein SHANK3 is associated with autism spectrum disorder (ASD). We examined 12 different PMDS patient and CRISPR-engineered stem cell-derived neuronal models and controls and found that reduced expression of SHANK3 leads to...

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Identifiers

PMID: 38858349
DOI: 10.1038/s41398-024-02947-3
PMCID: PMC11165012

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Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models.PMID 38858349Read ↗

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