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

• DOI: 10.1126/sciadv.abh3995
• Publication Date: 2021-10-16T02:00:11Z
• Authors: Kehan Zhang; Paige E. Cloonan; Subramanian Sundaram; Feng Liu; Shoshana L. Das; Jourdan K. Ewoldt; Jennifer L. Bays; Samuel Tomp; Christopher N. To...; Júlia D. C. Marsi...; Joshua Gorham; Daniel Reichart; Jeroen Eyckmans; Jonathan G. Seidman; Christine E. Seidman; Christopher S. Chen
• Keywords: 0301 basic medicine; 0303 health sciences; 03 medical and health sciences; Biomedicine and Life Sciences; 3. Good health

PKP 2 mutations lead to instability in cell-cell junctions and sarcomeres that impairs cardiac tissue contractility in ACM.