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

Nat Rev Neurosci
Authors
Keywords
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.

Year of Publication
2017
Journal
Nat Rev Neurosci
Volume
18
Issue
3
Pages
147-157
Date Published
2017 03
ISSN
1471-0048
DOI
10.1038/nrn.2016.183
PubMed ID
28179641
Links
Grant list
R01 MH097104 / MH / NIMH NIH HHS / United States