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Disrupting the Molecular Pathway in Myotonic Dystrophy
Authors:Xiaomeng Xing  Anjani Kumari  Jake Brown  John David Brook
Affiliation:School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK; (X.X.); (A.K.); (J.B.)
Abstract:Myotonic dystrophy is the most common muscular dystrophy in adults. It consists of two forms: type 1 (DM1) and type 2 (DM2). DM1 is associated with a trinucleotide repeat expansion mutation, which is transcribed but not translated into protein. The mutant RNA remains in the nucleus, which leads to a series of downstream abnormalities. DM1 is widely considered to be an RNA-based disorder. Thus, we consider three areas of the RNA pathway that may offer targeting opportunities to disrupt the production, stability, and degradation of the mutant RNA.
Keywords:myotonic dystrophy  CDK12  MBNL  RAN translation  molecular mechanism
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