Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in langu...

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Main Authors: Durand, Christelle M., Betancur, Catalina, Boeckers, Tobias M., Bockmann, Juergen, Chaste, Pauline, Fauchereau, Fabien, Nygren, Gudrun, Rastam, Maria, Gillberg, I Carina, Anckarsäter, Henrik, Sponheim, Eili, Goubran-Botros, Hany, Delorme, Richard, Chabane, Nadia, Mouren-Simeoni, Marie-Christine, de Mas, Philippe, Bieth, Eric, Rogé, Bernadette, Héron, Delphine, Burglen, Lydie, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: Nature Pub. Co. 2007
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2082049/
https://ncbi.nlm.nih.gov/pubmed/17173049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1933
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