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Review
. 2017 Mar;18(3):147-157.
doi: 10.1038/nrn.2016.183. Epub 2017 Feb 9.

SHANK proteins: roles at the synapse and in autism spectrum disorder

Patricia Monteiro  1   2   3   4 , Guoping Feng  1   2
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Free article
Review

SHANK proteins: roles at the synapse and in autism spectrum disorder

Patricia Monteiro et al. Nat Rev Neurosci. 2017 Mar.
Free article

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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