Article
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
EMBO molecular medicine - 1 Apr 2015
Okray Zeynep, de Esch Celine E F, Van Esch Hilde, Devriendt Koen, Claeys Annelies, Yan Jiekun, Verbeeck Jelle, Froyen Guy, Willemsen Rob, de Vrij Femke M S, Hassan Bassem A
Abstract excerpt
Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. The loss of FMR1 function is usually caused by epigenetic silencing of the FMR1 promoter leading to expansion and subsequent methylation of a CGG repeat in the 5' untranslated region. Very few coding sequence variations have been experimentally characterized and shown to be causal to the disease....
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