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

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...

詳細記述

保存先:
書誌詳細
出版年:EMBO Mol Med
主要な著者: Okray, Zeynep, de Esch, Celine EF, Van Esch, Hilde, Devriendt, Koen, Claeys, Annelies, Yan, Jiekun, Verbeeck, Jelle, Froyen, Guy, Willemsen, Rob, de Vrij, Femke MS, Hassan, Bassem A
フォーマット: Artigo
言語:Inglês
出版事項: BlackWell Publishing Ltd 2015
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4403044/
https://ncbi.nlm.nih.gov/pubmed/25693964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404576
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