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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N. Fugier C, et al. Among authors: toussaint a. Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29. Nat Med. 2011. PMID: 21623381
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Toussaint A, et al. Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. Acta Neuropathol. 2011. PMID: 20927630
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
Prokic I, Cowling BS, Kutchukian C, Kretz C, Tasfaout H, Gache V, Hergueux J, Wendling O, Ferry A, Toussaint A, Gavriilidis C, Nattarayan V, Koch C, Lainé J, Combe R, Tiret L, Jacquemond V, Pilot-Storck F, Laporte J. Prokic I, et al. Among authors: toussaint a. Dis Model Mech. 2020 Nov 24;13(11):dmm044354. doi: 10.1242/dmm.044354. Dis Model Mech. 2020. PMID: 32994313 Free PMC article.
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. Al-Qusairi L, et al. Among authors: toussaint a. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21. Proc Natl Acad Sci U S A. 2009. PMID: 19846786 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005043
276 results