Article
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jul 1997
Davis B M, McCurrach M E, Taneja K L, Singer R H, Housman D E
Abstract excerpt
Expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of DMPK, the gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited neuromuscular disorder myotonic dystrophy (DM). Transcripts containing the expanded trinucleotide are abundant in differentiat...
Topics
- Cell Line
- Humans
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Protein Serine-Threonine Kinases
- Transcription, Genetic
- Trinucleotide Repeats