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Author

Samuel Sossalla

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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. · 0 citations
Open access Jul 2026

RBM20 variants disrupt Ca2+ handling and metabolism in dilated and non-compaction cardiomyopathy stem cell models

Mutations in the splice-regulator RBM20 cause heart failure with reduced ejection fraction (HFrEF), typically manifesting as dilated cardiomyopathy (DCM). Mutations at position 634 in the RS-domain cause DCM with (R634L) or without (R634W) left ventricular non-compaction (LVNC). However, the mechanisms underlying pheno...

S. Rebs, F. Sedaghat-Hamedani, E. Kayvanpour et al. · 0 citations

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