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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: varone e. 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.
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A. Filipe A, et al. Among authors: varone e. Cell Death Differ. 2021 Jan;28(1):123-138. doi: 10.1038/s41418-020-0587-z. Epub 2020 Jul 13. Cell Death Differ. 2021. PMID: 32661288 Free PMC article.
Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity.
Chernorudskiy A, Varone E, Colombo SF, Fumagalli S, Cagnotto A, Cattaneo A, Briens M, Baltzinger M, Kuhn L, Bachi A, Berardi A, Salmona M, Musco G, Borgese N, Lescure A, Zito E. Chernorudskiy A, et al. Among authors: varone e. Proc Natl Acad Sci U S A. 2020 Sep 1;117(35):21288-21298. doi: 10.1073/pnas.2003847117. Epub 2020 Aug 17. Proc Natl Acad Sci U S A. 2020. PMID: 32817544 Free PMC article.
Functional organization of the endoplasmic reticulum dictates the susceptibility of target cells to arsenite-induced mitochondrial superoxide formation, mitochondrial dysfunction and apoptosis.
Guidarelli A, Catalani A, Spina A, Varone E, Fumagalli S, Zito E, Fiorani M, Cantoni O. Guidarelli A, et al. Among authors: varone e. Food Chem Toxicol. 2021 Oct;156:112523. doi: 10.1016/j.fct.2021.112523. Epub 2021 Aug 25. Food Chem Toxicol. 2021. PMID: 34453993