A blueprint for research on Shankopathies: A view from research on autism spectrum disorder | Zendy

Carbonetto Salvatore | Zendy

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A blueprint for research on Shankopathies: A view from research on autism spectrum disorder

Author(s) -

Carbonetto Salvatore

Publication year - 2014

Publication title -

developmental neurobiology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.716

H-Index - 129

eISSN - 1932-846X

pISSN - 1932-8451

DOI - 10.1002/dneu.22150

Subject(s) - blueprint , biology , autism spectrum disorder , neuroscience , translational research , context (archaeology) , autism , scaffold protein , glutamate receptor , synapse , genetics , cognitive science , receptor , psychology , psychiatry , signal transduction , mechanical engineering , paleontology , microbiology and biotechnology , engineering

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. © 2013 Wiley Periodicals, Inc. Develop Neurobiol 74: 85–112, 2014

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