期刊
DEVELOPMENTAL NEUROBIOLOGY
卷 74, 期 2, 页码 85-112出版社
WILEY
DOI: 10.1002/dneu.22150
关键词
Shank3; autism; synaptic genes; neurodevelopmental disorders
资金
- CIHR
- NSERC
Autism spectrum disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (C) 2013 Wiley Periodicals, Inc.
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