Article
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.
Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 2009
Mulders Susan A M, van den Broek Walther J A A, Wheeler Thurman M, Croes Huib J E, van Kuik-Romeijn Petra, de Kimpe Sjef J, Furling Denis, Platenburg Gerard J, Gourdon Geneviève, Thornton Charles A, Wieringa Bé, Wansink Derick G
Abstract excerpt
Myotonic dystrophy type 1 (DM1) is caused by toxicity of an expanded, noncoding (CUG)n tract in DM protein kinase (DMPK) transcripts. According to current evidence the long (CUG)n segment is involved in entrapment of muscleblind (Mbnl) proteins in ribonuclear aggregates and stabilized expression of CUG binding protein 1 (CUGBP1), causing aberrant premRNA splicing and associated pathogenesis in DM1 patients. Here,...
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