Nuclear Localization Signals

Publication Title: 
EMBO molecular medicine

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. Here, we describe a novel FMR1 mutation and reveal an unexpected nuclear export function for the C-terminus of FMRP.

Author(s): 
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.
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