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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...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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