Article
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.
The Journal of clinical investigation - 1 Dec 2009
Wang Guey-Shin, Kuyumcu-Martinez Muge N, Sarma Satyam, Mathur Nitin, Wehrens Xander H T, Cooper Thomas A
Abstract excerpt
Cardiac complications are a common cause of death in individuals with the inherited multisystemic disease myotonic dystrophy type 1 (DM1). A characteristic molecular feature of DM1 is misregulated alternative splicing due to disrupted functioning of the splicing regulators muscleblind-like 1 (MBNL1) and CUG-binding protein 1 (CUGBP1). CUGBP1 is upregulated in DM1 due to PKC pathway activation and subsequent...
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