SHANK Proteins: Roles at the Synapse and in Autism Spectrum Disorder

Overview

Journal Nat Rev Neurosci

Specialty Neurology

Date 2017 Feb 10

PMID 28179641

Citations 318

Authors

Patricia Monteiro

Guoping Feng

Affiliations

Soon will be listed here.

Abstract

Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.

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