Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy
Philipp Heher, Jakob Pfeiffer-Vogl, Massimo Ganassi, Raul-Cristian Fulea, Liam McGuire, Elise N. Engquist, M Tyszkiewicz, Johanna Prüller, Johannes Grillari, Giorgio A. Tasca, Christopher R. S. Banerji, Peter S. Zammit
This study identifies mitochondrial respiratory chain dysfunction and reverse electron transfer as key drivers of DUX4-induced toxicity in FSHD, suggesting RET inhibition as a therapeutic target.
bioRxiv · Nov 25, 2025 · PreprintBiochemistry