SHANK proteins: roles at the synapse and in autism spectrum disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/nrn.2016.183.pdf
Reference102 articles.
1. Sheng, M. & Hoogenraad, C. C. The postsynaptic architecture of excitatory synapses: a more quantitative view. Annu. Rev. Biochem. 76, 823–847 (2007).
2. Ahmari, S. E. & Smith, S. J. Knowing a nascent synapse when you see it. Neuron 34, 333–336 (2002).
3. Kano, M. & Hashimoto, K. Synapse elimination in the central nervous system. Curr. Opin. Neurobiol. 19, 154–161 (2009).
4. Sheng, M. & Kim, E. The postsynaptic organization of synapses. Cold Spring Harb. Perspect. Biol. 3, a005678 (2011).
5. Leblond, C. S. et al. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 10, e1004580 (2014). This study demonstrates a correlation between SHANK1, SHANK2 and SHANK3 mutations and the degree of cognitive impairment. The authors show that patients with SHANK3 mutations have more-severe cognitive deficits than those with SHANK1 or SHANK2 mutations and suggest SHANK mutation screening in clinical practice.
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