Article
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.
Science (New York, N.Y.) - 1 May 1998
Philips A V, Timchenko L T, Cooper T A
Abstract excerpt
Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene. One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the...
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