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Nat Rev Neurosci DOI:10.1038/nrn.2016.183

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

Publication TypeJournal Article
Year of Publication2017
AuthorsMonteiro, P, Feng, G
JournalNat Rev Neurosci
Volume18
Issue3
Pages147-157
Date Published2017 Mar
ISSN1471-0048
KeywordsAnimals, Autism Spectrum Disorder, Child Development Disorders, Pervasive, Humans, Mutation, Nerve Tissue Proteins, Neurons, Synapses
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.

DOI10.1038/nrn.2016.183
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/28179641?dopt=Abstract

Alternate JournalNat. Rev. Neurosci.
PubMed ID28179641