A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function

A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function

Abstract 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′ untranslat...

Full description

Saved in:
Bibliographic Details
Main Authors: Zeynep Okray, Celine EF de Esch, Hilde Van Esch, Koen Devriendt, Annelies Claeys, Jiekun Yan, Jelle Verbeeck, Guy Froyen, Rob Willemsen, Femke MS de Vrij, Bassem A Hassan
Format: Article
Language:English
Published: Springer Nature 2015-02-01
Series:EMBO Molecular Medicine
Subjects:
axon guidance
Drosophila
fragile X syndrome
nuclear export
nucleolus
Online Access:https://doi.org/10.15252/emmm.201404576
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.15252/emmm.201404576

Similar Items