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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: cali t. 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.
Play Around with mtDNA.
Calí T, Brini M. Calí T, et al. DNA Cell Biol. 2020 Aug;39(8):1369. doi: 10.1089/dna.2020.29016.tjt. Epub 2020 May 27. DNA Cell Biol. 2020. PMID: 32460541 No abstract available.
SERCA2 phosphorylation at the heart of the disease.
Brini M, Calì T. Brini M, et al. Among authors: cali t. Cell Calcium. 2023 Nov;115:102784. doi: 10.1016/j.ceca.2023.102784. Epub 2023 Jul 29. Cell Calcium. 2023. PMID: 37572431
Calcium signaling in Parkinson's disease.
Calì T, Ottolini D, Brini M. Calì T, et al. Cell Tissue Res. 2014 Aug;357(2):439-54. doi: 10.1007/s00441-014-1866-0. Epub 2014 May 1. Cell Tissue Res. 2014. PMID: 24781149 Review.
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