A blueprint for research on Shankopathies: A view from research on autism spectrum disorder. Issue 2 (17th December 2013)

• Record Type: Journal Article
• Authors: Carbonetto, Salvatore; Carbonetto, Salvatore; Bourgeron, Thomas
• Is Part Of: Developmental neurobiology. Volume 74:Issue 2(2014:Feb.)
• Page Start: 85
• Page End: 112
• Publication Date: 2013-12-17
• Subjects: Neurobiology -- Periodicals; Neurobiology; Neurobiologie -- Périodiques; Neurobiology; Periodicals; Periodicals; 573.838
• DOI: 10.1002/dneu.22150
• Languages: English
• ISSNs: 1932-8451

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p>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 <italic>SHANK3</italic> which encodes a protein that forms a scaffold for glutamate receptors at the synapse. <italic>SHANK3</italic> 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</p> </abstract>