Article
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy.
Science translational medicine - 22 Mar 2023
Tsui Hoyee, van Kampen Sebastiaan Johannes, Han Su Ji, Meraviglia Viviana, van Ham Willem B, Casini Simona, van der Kraak Petra, Vink Aryan, Yin Xiaoke, Mayr Manuel, Bossu Alexandre, Marchal Gerard A, Monshouwer-Kloots Jantine, Eding Joep, Versteeg Danielle, de Ruiter Hesther, Bezstarosti Karel, Groeneweg Judith, Klaasen Sjoerd J, van Laake Linda W, Demmers Jeroen A A, Kops Geert J P L, Mummery Christine L, van Veen Toon A B, Remme Carol Ann, Bellin Milena, van Rooij Eva
Abstract excerpt
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 remain unresolved. Explanted hearts from patients with ACM had less PKP2 compared with healthy hearts, which correlated with reduced...
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