SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E.
Germani S, et al. Among authors: boncompagni s.
Cell Rep Med. 2024 Mar 19;5(3):101439. doi: 10.1016/j.xcrm.2024.101439. Epub 2024 Feb 22.
Cell Rep Med. 2024.
PMID: 38402623
Free PMC article.