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SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity.
Guiraud A, Couturier N, Christin E, Castellano L, Daura M, Kretz-Remy C, Janin A, Ghasemizadeh A, Del Carmine P, Monteiro L, Rotard L, Sanchez C, Jacquemond V, Burny C, Janczarski S, Durieux AC, Arnould D, Romero NB, Bui MT, Buchman VL, Julien L, Bitoun M, Gache V. Guiraud A, et al. Among authors: bitoun m. EMBO Rep. 2025 Apr;26(8):2166-2191. doi: 10.1038/s44319-025-00413-9. Epub 2025 Mar 10. EMBO Rep. 2025. PMID: 40065183 Free PMC article.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
67 results