Author

C. Jouve

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Open access Aug 2026

Desmin p.R406W mutation is associated with arrhythmias through structural and electrophysiological remodeling

This study highlights the effectiveness of hiPSC-CMs and EHTs in recapitulating the clinical phenotype of desminopathy, providing a platform for investigating the mechanisms of early-onset cardiac arrhythmias and SCD.

M. Geryk, T. Stervinou, Martin Bouaud et al. · bioRxiv · 0 citations

Jul 2026

LMNA p.H222P mutation causes contractile dysfunction via impaired mitochondrial calcium uptake in human cardiac laminopathy.

This work provides a paradigm for connecting gene-specific nuclear defects to mitochondrial dysfunction in inherited cardiomyopathies and highlights the MCU complex as a potential therapeutic target in LMNA-related cardiomyopathy.

M. Seguret, C. Jouve, A. Ruiz-Velasco et al. · Cardiovascular Research · 1 citation