Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Human molecular genetics - 15 Feb 2015
Ramos-Brossier Mariana, Montani Caterina, Lebrun Nicolas, Gritti Laura, Martin Christelle, Seminatore-Nole Christine, Toussaint Aurelie, Moreno Sarah, Poirier Karine, Dorseuil Olivier, Chelly Jamel, Hackett Anna, Gecz Jozef, Bieth Eric, Faudet Anne, Heron Delphine, Frank Kooy R, Loeys Bart, Humeau Yann, Sala Carlo, Billuart Pierre
Abstract excerpt
Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability (ID) and autism spectrum disorder. This protein interacts with synaptic partners like PSD-95 and PTPδ, regulating the formation and function of excitatory synapses. The aim of this work was to characterize the synaptic consequences of three IL1RAPL1 mutations, two novel...
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