Citations for
1CNM7, HACD1
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.
Am J Pathol 187(2):441-456. doi: 10.1016/j.ajpath.2016.10.002. Epub 2016 Dec 8. 2017
2CNM7, HACD1
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.
J Mol Cell Biol 7(5):429-40. doi: 10.1093/jmcb/mjv049. Epub 2015 Jul 9. 2015
3CNM7, HACD1
Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R.
Hum Mol Genet 22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. 2013