SHANK proteins: roles at the synapse and in autism spectrum disorder.
Nat Rev Neurosci
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| 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
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| Journal | Nat Rev Neurosci
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| Volume | 18
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| Issue | 3
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| Pages | 147-157
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| Date Published | 2017 03
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| ISSN | 1471-0048
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| DOI | 10.1038/nrn.2016.183
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| PubMed ID | 28179641
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| Grant list | R01 MH097104 / MH / NIMH NIH HHS / United States
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