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Article

Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 24 Oct 2012

Arons Magali H, Thynne Charlotte J, Grabrucker Andreas M, Li Dong, Schoen Michael, Cheyne Juliette E, Boeckers Tobias M, Montgomery Johanna M, Garner Craig C

Abstract excerpt

Mutations in several postsynaptic proteins have recently been implicated in the molecular pathogenesis of autism and autism spectrum disorders (ASDs), including Neuroligins, Neurexins, and members of the ProSAP/Shank family, thereby suggesting that these genetic forms of autism may share common synaptic mechanisms. Initial studies of ASD-associated mutations in ProSAP2/Shank3 support a role for this protein in...

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Identifiers

PMID: 23100419
DOI: 10.1523/JNEUROSCI.2215-12.2012
PMCID: PMC3752148

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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