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Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization

Kehan Zhang, Paige E. Cloonan, Subramanian Sundaram, Feng Liu, Shoshana L. Das, Jourdan K. Ewoldt, Jennifer Bays, Samuel Tomp, Christopher N. Toepfer, Júlia Daher Carneiro Marsiglia, Joshua Gorham, Daniel Reichart, Jeroen Eyckmans, Jonathan G. Seidman, Christine E. Seidman, Christopher S. Chen

2021Science Advances34 citationsDOIOpen Access PDF

Abstract

tvs impair cardiac tissue contractility by destabilizing cell-cell junctions and in turn disrupting sarcomere stability and organization. These findings highlight the interplay between cell-cell adhesions and sarcomeres required for stabilizing cardiomyocyte structure and function and suggest fundamental pathogenic mechanisms that may be shared among different types of cardiomyopathies.

Topics & Concepts

SarcomereContractilityCell biologyCardiologyBiologyMyocyteMedicineCardiovascular Effects of ExerciseCardiomyopathy and Myosin StudiesTissue Engineering and Regenerative Medicine
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