Article
Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes.
Cell reports - 11 Dec 2014
Gkogkas Christos G, Khoutorsky Arkady, Cao Ruifeng, Jafarnejad Seyed Mehdi, Prager-Khoutorsky Masha, Giannakas Nikolaos, Kaminari Archontia, Fragkouli Apostolia, Nader Karim, Price Theodore J, Konicek Bruce W, Graff Jeremy R, Tzinia Athina K, Lacaille Jean-Claude, Sonenberg Nahum
Abstract excerpt
Fragile X syndrome (FXS) is the leading genetic cause of autism. Mutations in Fmr1 (fragile X mental retardation 1 gene) engender exaggerated translation resulting in dendritic spine dysmorphogenesis, synaptic plasticity alterations, and behavioral deficits in mice, which are reminiscent of FXS phenotypes. Using postmortem brains from FXS patients and Fmr1 knockout mice (Fmr1(-/y)), we show that phosphorylation...
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