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New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3′ UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci. The expanded mutant transcript promotes the sequestration of the MBNL1 spl...
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| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Oxford University Press
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3326330/ https://ncbi.nlm.nih.gov/pubmed/22156369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkr1228 |
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