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Article

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

Molecular psychiatry - 1 Jan 2012

Durand C M, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, Sans N

Abstract excerpt

Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2 is a scaffolding protein that connects glutamate receptors to the actin cytoskeleton via a chain of intermediary elements. Although genetic studies have repeatedly confirmed the association of SHANK3 mutations with susceptibility to psychiatric...

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Identifiers

PMID: 21606927
DOI: 10.1038/mp.2011.57
PMCID: PMC3252613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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