Articles with "patients acm" as a keyword



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Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy

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Published in 2023 at "Science Translational Medicine"

DOI: 10.1126/scitranslmed.add4248

Abstract: Arrhythmogenic cardiomyopathy (ACM) is an inherited progressive cardiac disease. Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the genetic basis of ACM is well characterized, the underlying disease-driving mechanisms… read more here.

Keywords: arrhythmogenic cardiomyopathy; cardiomyopathy; desmosomal protein; degradation ... See more keywords