Figure 1.
Schematic Summary of the Potential Mechanisms Involved in the Disease Development of PLN-R14del Cardiomyopathy
The models supporting the findings (and optionally patient validation) are listed below each finding. Proven consequences or interactions are indicated by a solid arrow, whereas likely but not yet proven consequences or interactions are indicated by a dashed arrow. ∗The activity of sarco/endoplasmic reticulum calcium adenosine triphosphatase (SERCA) in presence of PLN-R14del compared to SERCA activity in the presence of wild-type PLN. ACM = arrhythmogenic cardiomyopathy; Ca2+ = calcium; DCM = dilated cardiomyopathy; EHT = engineered heart tissue derived from hiPSC-CMs; HEK-293 cells = human embryonic kidney 293 cells; hiPSC-CM = human induced pluripotent stem cell–derived cardiomyocytes; hR14del mouse = humanized PLN-R14del mouse model; PLN = phospholamban; R14del-KI = PLN-R14del knock-in mouse model; R14del-Tg = transgenic/overexpressing PLN-R14del mouse model; S16-P = phosphorylation of the protein kinase A phosphorylation site of PLN; S/ER = sarco/endoplasmic reticulum; SR = sarcoplasmic reticulum. Several icons from BioRender.com were used to design this figure.