Anneline S.J.M. te Riele

This study shows that the PLN R14del mutation increases nuclear susceptibility to mechanical stress in cardiomyopathy, linking nuclear dysfunction to disease variability.

This study identifies reduced oxidative phosphorylation (OXPHOS) in PKP2 mutant cardiomyocytes due to lower PPARGC1A expression, suggesting PPARGC1A modulation as a potential therapeutic target for arrhythmogenic cardiomyopathy.

This study shows that fasting improves PLN R14del cardiomyopathy by restoring lysosomal function and reducing SR-derived vesicle accumulation.

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.