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...

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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Springer Nature 2015-02-01
Serie:	EMBO Molecular Medicine
Soggetti:	axon guidance Drosophila fragile X syndrome nuclear export nucleolus
Accesso online:	https://doi.org/10.15252/emmm.201404576
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