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SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
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.
The MuSK-BMP pathway maintains myofiber size in slow muscle through regulation of Akt-mTOR signaling.
Jaime D, Fish LA, Madigan LA, Xi C, Piccoli G, Ewing MD, Blaauw B, Fallon JR.
Jaime D, et al. Among authors: piccoli g.
Skelet Muscle. 2024 Jan 3;14(1):1. doi: 10.1186/s13395-023-00329-9.
Skelet Muscle. 2024.
PMID: 38172960
Free PMC article.
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