Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing

A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystrophy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates in muscles of OPMD patients. While the roles of PABPN1 in nuclear polyadeny...

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發表在:Nucleic Acids Res
Main Authors: Klein, Pierre, Oloko, Martine, Roth, Fanny, Montel, Valérie, Malerba, Alberto, Jarmin, Susan, Gidaro, Teresa, Popplewell, Linda, Perie, Sophie, Lacau St Guily, Jean, de la Grange, Pierre, Antoniou, Michael N., Dickson, George, Butler-Browne, Gillian, Bastide, Bruno, Mouly, Vincent, Trollet, Capucine
格式: Artigo
語言:Inglês
出版: Oxford University Press 2016
主題:
RNA
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159528/
https://ncbi.nlm.nih.gov/pubmed/27507886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw703
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