BiochemistrybioRxivPreprint
Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy
Philipp Heher, Jakob Pfeiffer-Vogl, Massimo Ganassi…·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.
DOI 10.1101/2025.11.25.690559