Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability and autism spectrum disorder. This protein interacts with synaptic partners like PSD-95 and PTPδ, regulating the formation and function of excitatory synapses....

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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, Kooy, Frank, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867007/
https://ncbi.nlm.nih.gov/pubmed/25305082
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