Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C.; Nava, C.; Polge, A.; Gauthier, J.; Huguet, G.; Lumbroso, S.; Giuliano, F.; Stordeur, C.; Depienne, C.; Mouzat, K.; Leblond, C.; Pinto, D.; Howe, J.; Lemière, N.; Durand, C.; Guibert, J.; Ey, Elodie; Toro, R.; Peyre, H.; Mathieu, A.; Amsellem, F.; Råstam, M.; Gillberg, I.; Rappold, G.; Holt, R.; Monaco, A.; Maestrini, E.; Galan, P.; Heron, D.; Jacquette, A.; Afenjar, A.; Rastetter, Agnès; Brice, A.; Devillard, F.; Assouline, B.; Laffargue, F.; Lespinasse, J.; Chiésa, J.; Rivier, F.; Bonneau, D.; Regnault, B.; Zélénika, D.; Delepine, M.; Lathrop, M.; Sanlaville, D.; Schluth-Bolard, C.; Edery, P.; Perrin, L.; Tabet, A.; Schmeisser, M.; Boeckers, T.; Coleman, M.; Sato, Daisuke; Szatmari, P.; Scherer, S.; Rouleau, G.; Betancur, C.; Leboyer, M.; Gillberg, C.; Delorme, R.; Bourgeron, T.

doi:10.1371/journal.pgen.1004580

Public

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Shared by NobleBlocks on Sep 1, 2014 • 12:00 AM UTC

Authors:

C. Leblond

C. Nava

A. Polge

Abstract

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 a...

Subject

Biology

Medicine

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