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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: van ho at. 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.
Multiparameter analysis of timelapse imaging reveals kinetics of megakaryocytic erythroid progenitor clonal expansion and differentiation.
Scanlon VM, Thompson EN, Lawton BR, Kochugaeva M, Ta K, Mayday MY, Xavier-Ferrucio J, Kang E, Eskow NM, Lu YC, Kwon N, Laumas A, Cenci M, Lawrence K, Barden K, Larsuel ST, Reed FE, Peña-Carmona G, Ubbelohde A, Lee JP, Boobalan S, Oppong Y, Anderson R, Maynard C, Sahirul K, Lajeune C, Ivathraya V, Addy T, Sanchez P, Holbrook C, Van Ho AT, Duncan JS, Blau HM, Levchenko A, Krause DS. Scanlon VM, et al. Among authors: van ho at. Sci Rep. 2022 Sep 28;12(1):16218. doi: 10.1038/s41598-022-19013-x. Sci Rep. 2022. PMID: 36171423 Free PMC article.
High-resolution myogenic lineage mapping by single-cell mass cytometry.
Porpiglia E, Samusik N, Ho ATV, Cosgrove BD, Mai T, Davis KL, Jager A, Nolan GP, Bendall SC, Fantl WJ, Blau HM. Porpiglia E, et al. Among authors: ho atv. Nat Cell Biol. 2017 May;19(5):558-567. doi: 10.1038/ncb3507. Epub 2017 Apr 17. Nat Cell Biol. 2017. PMID: 28414312 Free PMC article.