LARGE enzyme activity deciphered: A new therapeutic target for muscular dystrophies

Genome Medicine

Volumn 4, Issue 3, 2012, Pages

  Hewitt, Jane E ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Dystroglycan; Extracellular matrix; Glycosaminoglycan; Glycosylation; Glycosyltransferase; Muscular dystrophy

Indexed keywords

DYSTROGLYCAN; GLUCURONOSYLTRANSFERASE; GLYCOSYLTRANSFERASE;

BIOINFORMATICS; DISEASE SEVERITY; ENZYME ACTIVITY; EXTRACELLULAR MATRIX; GLYCOSYLATION; HUMAN; HUMAN GENOME; MUSCULAR DYSTROPHY; NONHUMAN; NOTE; PRIORITY JOURNAL; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; SEQUENCE ANALYSIS; WALKER WARBURG SYNDROME;

EID: 84858712285     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm322     Document Type: Note

References (10)

1. Godfrey C, Foley AR, Clement E, Muntoni F. Dystroglycanopathies: coming into focus. Curr Op Genet Dev 2011, 21:278-285. 10.1016/j.gde.2011.02.001, 21397493.
2. Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE. Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse. Nat Genet 2001, 28:151-154. 10.1038/88865, 11381262.
3. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002, 418:417-422. 10.1038/nature00837, 12140558.
4. Kunz S. Receptor binding and cell entry of Old World arenaviruses reveal novel aspects of virus-host interaction. Virology 2009, 387:245-249. 10.1016/j.virol.2009.02.042, 19324387.
5. Beltran-Valero de Bernabé D, Inamori K, Yoshida-Moriguchi T, Weydert CJ, Harper HA, Willer T, Henry MD, Campbell KP. Loss of α-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE. J Biol Chem 2009, 284:11279-11284. 2670132, 19244252.
6. Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 2006, 119:199-207. 10.1242/jcs.02814, 16410545.
7. Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP. Dystroglycan function requires xylosyl- and glucoronyltransferase activities of LARGE. Science 2012, 335:93-96. 10.1126/science.1214115, 22223806.
8. Yoshida-Moriguchi T, Liping Y, Stainaker SH, Davis S, Kunz S, Madson M, Oldstone MBA, Schachter H, Wells L, Campbell KP. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science 2010, 327:88-92. 10.1126/science.1180512, 2978000, 20044576.
9. Combs AC, Ervasti JM. Enhanced laminin binding by α-dystrogycan after enzymatic deglycosylation. Biochem J 2005, 390:303-309. 10.1042/BJ20050375, 1184583, 15865602.
10. Esko JD, Kimata K, Lindahl U. Proteoglycans and sulfated glycosaminoglycans. Essentials of Glycobiology 2009, Cold Spring Harbor: Cold Spring Harbor Laboratory Press, Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME, 2.