Article
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS genetics - 1 Sept 2014
Leblond Claire S, Nava Caroline, Polge Anne, Gauthier Julie, Huguet Guillaume, Lumbroso Serge, Giuliano Fabienne, Stordeur Coline, Depienne Christel, Mouzat Kevin, Pinto Dalila, Howe Jennifer, Lemière Nathalie, Durand Christelle M, Guibert Jessica, Ey Elodie, Toro Roberto, Peyre Hugo, Mathieu Alexandre, Amsellem Frédérique, Rastam Maria, Gillberg I Carina, Rappold Gudrun A, Holt Richard, Monaco Anthony P, Maestrini Elena, Galan Pilar, Heron Delphine, Jacquette Aurélia, Afenjar Alexandra, Rastetter Agnès, Brice Alexis, Devillard Françoise, Assouline Brigitte, Laffargue Fanny, Lespinasse James, Chiesa Jean, Rivier François, Bonneau Dominique, Regnault Beatrice, Zelenika Diana, Delepine Marc, Lathrop Mark, Sanlaville Damien, Schluth-Bolard Caroline, Edery Patrick, Perrin Laurence, Tabet Anne Claude, Schmeisser Michael J, Boeckers Tobias M, Coleman Mary, Sato Daisuke, Szatmari Peter, Scherer Stephen W, Rouleau Guy A, Betancur Catalina, Leboyer Marion, Gillberg Christopher, Delorme Richard, Bourgeron Thomas
Abstract excerpt
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined....
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