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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.
Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice.
Villani KR, Zhong R, Henley-Beasley CS, Rastelli G, Boncompagni S, Barton ER, Wei-LaPierre L. Villani KR, et al. Among authors: boncompagni s. bioRxiv [Preprint]. 2024 Jan 15:2024.01.12.575391. doi: 10.1101/2024.01.12.575391. bioRxiv. 2024. Update in: FASEB J. 2024 Jul 31;38(14):e23825. doi: 10.1096/fj.202400697R PMID: 38293127 Free PMC article. Updated. Preprint.
92 results