Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Muscle and Nerve

Volumn 38, Issue 3, 2008, Pages 1192-1195

  Kawahara, Genri ^a   Ogawa, Megumu ^a   Okada, Mari ^a,b   Malicdan, May Christine V ^a   Goto, Yu Ichi ^a   Hayashi, Yukiko K ^a   Noguchi, Satoru ^a   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOHO UNIVERSITY   (Japan)

Author keywords

Collagen VI; Extracellular matrix; Myotube; Triple helical domain; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN TYPE 6; MUTANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRACELLULAR MATRIX; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; JAPANESE; MUSCLE CELL; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING;

CELLS, CULTURED; COLLAGEN TYPE VI; EXTRACELLULAR MATRIX; HUMANS; MUSCLE CELLS; MUSCULAR DYSTROPHIES; MUTATION; PROTEIN BINDING;

EID: 51349109654     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21030     Document Type: Article

References (17)

1. Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005;14:279-293.
2. Baldock C, Sherratt MJ, Shuttleworth CA, Kielty CM. The supramolecular organization of collagen VI microfibrils. J Mol Biol 2003;330:297-307.
3. Ball S, Bella J, Kielty C, Shuttleworth A. Structural basis of type VI collagen dimer formation. J Biol Chem 2003;278:15326-15332.
4. Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001;98:7516-7521.
5. Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol 2005;58:400-410.
6. Higuchi I, Shiraishi T, Hashiguchi T, Suehara M, Niiyama T, Nakagawa M, et al. Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001;50:261-265.
7. Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-623.
8. Kawahara G, Okada M, Morone N, Ibarra AC, Nonaka I, Noguchi S, et al. Reduced cell anchorage may cause sarcolemma specific collagen VI deficiency in Ullrich disease. Neurology 2007;69:1043-1049.
9. Kuo HJ, Maslen CL, Keene DR, Glanville RW. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 1997;272:26522-26529.
10. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 2005;42:108-120.
11. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69:1035-1042.
12. Sabatelli P, Bonaldo P, Lattanzi G, Braghetta P, Bergamin N, Capanni C, et al. Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol 2001;20:475-486.
13. Tillet E, Ruggiero F, Nishiyama A, Stallcup WB. The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. J Biol Chem 1997;272:10769-10776.
14. Ullrich, O. Kongenitale, atonisch-sklerotische Muskeldystrophic, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. Z Ges Neurol Psychiat 1930;126:171-201.
15. Weil D, Mattet MG, Passage E, N'Guyen VC, Pribula-Conway D, Mann K, et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 1998;42:435-445.
16. Wiberg C, Hedbom E, Khairullina A, Lamandé SR, Oldberg A, Timpl R, et al. Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix. J Biol Chem 2001;276:18947-18952.
17. Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol 2008;67:144-154.