Figure 9.

Schematic diagram illustrating the effects induced by expression of R321X in HEK293 cells. ER mis‐localization of R321X elicits the ER stress response leading to: (i) activation of the PERK‐CHOP signalling pathway leading to apoptosis; (ii) ER abnormal Ca²⁺ handling leading to impaired cytosolic and nuclear Ca²⁺ signalling which in turn might impact Ca²⁺‐mediated process such as gene regulation and contraction in cardiac cells.