Dilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of cardiac calcium handling
S. R. Cleary, A. C. Teng, A. Deyawe Kongmeneck, X. Fang, T. A. Phillips, E. E. Cho, P. M. Kekenes-Huskey, A. O. Gramolini, S. L. Robia
This study shows that the R14del mutation in phospholamban increases pentamer stability, reducing its ability to regulate SERCA and impairing cardiac calcium handling during physiological stress.
bioRxiv · May 26, 2023 · PreprintPhysiology