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