Journal
NATURE REVIEWS NEUROSCIENCE
Volume 18, Issue 3, Pages 147-157Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrn.2016.183
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Funding
- Simons Foundation Autism Research Initiative (SFARI grant) [178130]
- Society in Science, The Branco Weiss Fellowship
- European Molecular Biology Organization (EMBO) Long-Term Fellowship [ALTF 89-2016]
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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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