Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder caused by expansion of 55–200 CGG repeats in the 5′-UTR of the FMR1 gene. FXTAS is characterized by action tremor, gait ataxia and impaired executive cognitive functioning. It has been proposed that FXTAS is caused b...

詳細記述

保存先:
書誌詳細
主要な著者: Sellier, Chantal, Rau, Frédérique, Liu, Yilei, Tassone, Flora, Hukema, Renate K, Gattoni, Renata, Schneider, Anne, Richard, Stéphane, Willemsen, Rob, Elliott, David J, Hagerman, Paul J, Charlet-Berguerand, Nicolas
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2010
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857464/
https://ncbi.nlm.nih.gov/pubmed/20186122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emboj.2010.21
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