Cited by 681Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

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

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Monteiro, Patricia, Feng, Guoping·2017·Nature Reviews Neuroscience

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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Crossref · 10.1038/nrn.2016.183

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Authors
Monteiro, P., & Feng, G.
Affiliations
Broad Institute (US)
Corresponding author
Feng, Guoping
Venue
Nature Reviews Neuroscience
Published
2017-02-09
Volume
18
Issue
3
Pages
147-157
ISSN
  • 1471-003X (ISSN-L)
  • 1471-0048
OpenAlex
W2586432482
Cited by
681
References
30
Citations by year
2026: 69 · 2025: 77 · 2024: 89 · 2023: 78 · 2022: 77 · 2021: 84 · 2020: 63 · 2019: 58 · 2018: 58 · 2017: 28
FWCI
7.28
Type
journal article
Language
en
Open access
Locations
  • Nature reviews. Neuroscience (publishedVersion)
  • PubMed (publishedVersion)
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (publishedVersion, other-oa)
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, cc-by-nc-nd)
Funders
National Institute of Mental Health (R01MH097104)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords
Shank1, Shank2, SHANK3, autism spectrum disorder, postsynaptic scaffolding proteins, glutamatergic synapses, neural circuits, genetic mutations, animal models of autism
MeSH terms
Autism Spectrum Disorder, Animals, Child Development Disorders, Pervasive, Humans, Mutation, Nerve Tissue Proteins, Neurons, Synapses

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