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HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Blondelle J, Ohno Y, Gache V, Guyot S, Storck S, Blanchard-Gutton N, Barthélémy I, Walmsley G, Rahier A, Gadin S, Maurer M, Guillaud L, Prola A, Ferry A, Aubin-Houzelstein G, Demarquoy J, Relaix F, Piercy RJ, Blot S, Kihara A, Tiret L, Pilot-Storck F. Blondelle J, et al. Among authors: tiret l. J Mol Cell Biol. 2015 Oct;7(5):429-40. doi: 10.1093/jmcb/mjv049. Epub 2015 Jul 9. J Mol Cell Biol. 2015. PMID: 26160855 Free PMC article.
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Among authors: tiret l. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pelé M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthélémy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Maurer M, et al. Among authors: tiret l. PLoS One. 2012;7(10):e46408. doi: 10.1371/journal.pone.0046408. Epub 2012 Oct 5. PLoS One. 2012. PMID: 23071563 Free PMC article.
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice.
Redelsperger F, Raddi N, Bacquin A, Vernochet C, Mariot V, Gache V, Blanchard-Gutton N, Charrin S, Tiret L, Dumonceaux J, Dupressoir A, Heidmann T. Redelsperger F, et al. Among authors: tiret l. PLoS Genet. 2016 Sep 2;12(9):e1006289. doi: 10.1371/journal.pgen.1006289. eCollection 2016 Sep. PLoS Genet. 2016. PMID: 27589388 Free PMC article.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barthélémy I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ. Walmsley GL, et al. Among authors: tiret l. Am J Pathol. 2017 Feb;187(2):441-456. doi: 10.1016/j.ajpath.2016.10.002. Epub 2016 Dec 8. Am J Pathol. 2017. PMID: 27939133 Free article.
277 results