Author

M. Pavez-Giani

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Open access Aug 2026

Distinct mitochondrial DNA single-nucleotide variant signatures in TOP3A-deficient cardiomyocytes

The human heart has a continuous and exceptionally high demand for energy, which is met primarily through mitochondrial oxidative phosphorylation. This dependence places the maintenance and integrity of mitochondrial DNA (mtDNA) for proper mitochondrial function at the center of cardiac health, as mtDNA instability has...

Marianne Gaubert, Halima Alachram, Ipek Ilgin Gönenç et al. · bioRxiv · 0 citations

Open access Sep 2026

AMPK reinforces mitochondrial metabolism and suppresses pathological remodeling in Complex V–deficient cardiomyocytes

TMEM70 variants represent the most common nuclear cause of mitochondrial ATP synthase (Complex V) deficiency and are associated with particularly severe cardiac manifestations. Yet, how TMEM70 deficiency disrupts cardiomyocyte metabolic maturation and function remains poorly understood, in part because suitable human d...

Esteban Palacios-Contreras, Karen An der Brügge, J. Fell et al. · bioRxiv · 0 citations