Article
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
Clinical genetics - 1 Jul 2013
Rasmussen T B, Hansen J, Nissen P H, Palmfeldt J, Dalager S, Jensen U B, Kim W Y, Heickendorff L, Mølgaard H, Jensen H K, Sørensen K E, Baandrup U T, Bross P, Mogensen J
Abstract excerpt
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS). Desmoplakin is part of all desmosomes, which are abundantly expressed in both myocardial and epidermal tissue and serve as intercellular mechanical junctions. This study aimed to investigate protein expression in myocardial and epidermal tissue of ARVC and CS patients carrying...
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