ColVI myopathies: Where do we stand, where do we go?

Skeletal Muscle

Volumn 1, Issue 1, 2011, Pages

  Allamand, Valérie ^a,b,c,d   Briñas, Laura ^a,b,c,d   Richard, Pascale ^e   Stojkovic, Tanya ^a,b,c,d,e   Quijano Roy, Susana ^f   Bonne, Gisèle ^a,b,c,d,e  

^a INSERM   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d Institut de Myologie   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALIA;

EID: 84863877497     PISSN: None     EISSN: 20445040     Source Type: Journal    
DOI: 10.1186/2044-5040-1-30     Document Type: Article

References (115)

1. Leitinger B, Hohenester E. Mammalian collagen receptors. Matrix Biol 2007, 26:146-155. 10.1016/j.matbio.2006.10.007, 17141492.
2. Bidanset D, Guidry C, Rosenberg L, Choi H, Timpl R, Hook M. Binding of the proteoglycan decorin to collagen type VI. J Biol Chem 1992, 267:5250-5256.
3. Bonaldo P, Russo V, Bucciotti F, Doliana R, Colombatti A. Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues. Biochemistry 1990, 29:1245-1254. 10.1021/bi00457a021, 2322559.
4. Burg MA, Tillet E, Timpl R, Stallcup WB. Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules. J Biol Chem 1996, 271:26110-26116. 10.1074/jbc.271.42.26110, 8824254.
5. Doane KJ, Yang G, Birk DE. Corneal cell-matrix interactions: type VI collagen promotes adhesion and spreading of corneal fibroblasts. Exp Cell Res 1992, 200:490-499. 10.1016/0014-4827(92)90200-R, 1572410.
6. Heino J. The collagen family members as cell adhesion proteins. BioEssays 2007, 29:1001-1010. 10.1002/bies.20636, 17876790.
7. Keene D, Engvall E, Glanville R. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. J Cell Biol 1988, 107:1995-2006. 10.1083/jcb.107.5.1995, 2115316, 3182942.
8. Kielty CM, Whittaker SP, Grant ME, Shuttleworth CA. Type VI collagen microfibrils: evidence for a structural association with hyaluronan. J Cell Biol 1992, 118:979-990. 10.1083/jcb.118.4.979, 2289577, 1323568.
9. Kuo H-J, 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. 10.1074/jbc.272.42.26522, 9334230.
10. McDevitt CA, Marcelino J, Tucker L. Interaction of intact type VI collagen with hyaluronan. FEBS Letters 1991, 294:167-170. 10.1016/0014-5793(91)80660-U, 1756855.
11. Pfaff M, Aumailley M, Specks U, Knolle J, Zerwes HG, Timpl R. Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI. Exp Cell Res 1993, 206:167-176. 10.1006/excr.1993.1134, 8387021.
12. Specks U, Mayer U, Nischt R, Spissinger T, Mann K, Timpl R, Engel J, Chu ML. Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan. Embo J 1992, 11:4281-4290. 557001, 1425570.
13. Takahashi T, Cho HI, Kublin CL, Cintron C. Keratan sulfate and dermatan sulfate proteoglycans associate with type VI collagen in fetal rabbit cornea. J Histochem Cytochem 1993, 41:1447-1457. 10.1177/41.10.8245404, 8245404.
14. 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. 10.1074/jbc.272.16.10769, 9099729.
15. Wiberg C, Klatt AR, Wagener R, Paulsson M, Bateman JF, Heinegard D, Morgelin M. Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. J Biol Chem 2003, 278:37698-37704. 10.1074/jbc.M304638200, 12840020.
16. Chu ML, Pan TC, Conway D, Kuo HJ, Glanville RW, Timpl R, Mann K, Deutzmann R. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. EMBO J 1989, 8:1939-1946. 401054, 2551668.
17. Chu ML, Zhang RZ, Pan TC, Stokes D, Conway D, Kuo HJ, Glanville R, Mayer U, Mann K, Deutzmann R, Timpl R. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. EMBO J 1990, 9:385-393. 551678, 1689238.
18. Weil D, Mattei MG, Passage E, N'Guyen VC, Pribula-Conway D, Mann K, Deutzmann R, Timpl R, Chu ML. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 1988, 42:435-445. 1715162, 3348212.
19. Fitzgerald J, Rich C, Zhou FH, Hansen U. Three novel collagen VI Chains, {alpha}4(VI), {alpha}5(VI), and {alpha}6(VI). J Biol Chem 2008, 283:20170-20180. 10.1074/jbc.M710139200, 18400749.
20. Gara SK, Grumati P, Urciuolo A, Bonaldo P, Kobbe B, Koch M, Paulsson M, Wagener R. Three novel collagen vi chains with high homology to the {alpha}3 chain. J Biol Chem 2008, 283:10658-10670. 10.1074/jbc.M709540200, 18276594.
21. Wagener R, Gara SK, Kobbe B, Paulsson M, Zaucke F. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene. Matrix Biol 2009, 28:307-310. 10.1016/j.matbio.2009.05.003, 19486942.
22. Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Expression of the collagen VI [alpha]5 and [alpha]6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. J Invest Dermatol 2010, 131:99-107.
23. Söderhäll C, Marenholz I, Kerscher T, Rüschendorf F, Esparza-Gordillo J, Worm M, Gruber C, Mayr G, Albrecht M, Rohde K, Schulz H, Wahn U, Hubner N, Lee YA. Variants in a novel epidermal collagen gene (col29a1) are associated with atopic dermatitis. PLoS Biology 2007, 5:e242. 10.1371/journal.pbio.0050242, 1971127, 17850181.
24. Castro-Giner F, Bustamante M, Ramon Gonzalez J, Kogevinas M, Jarvis D, Heinrich J, Anto J-M, Wjst M, Estivill X, de Cid R. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). BMC Medical Genetics 2009, 10:128. 10.1186/1471-2350-10-128, 2797505, 19961619.
25. Esparza-Gordillo J, Weidinger S, Folster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner U, Wahn S, Schreiber A, Franke R, Vogler S, Heath H, Baurecht N, Novak E, Rodriguez T, Illig M-A, Lee-Kirsch A, Ciechanowicz M, Kurek T, Piskackova M, Macek Y-A, Lee Ruether A. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet 2009, 41:596-601. 10.1038/ng.347, 19349984.
26. Braghetta P, Fabbro C, Piccolo S, Marvulli D, Bonaldo P, Volpin D, Bressan GM. Distinct regions control transcriptional activation of the alpha1(VI) collagen promoter in different tissues of transgenic mice. J Cell Biol 1996, 135:1163-1177. 10.1083/jcb.135.4.1163, 2133380, 8922394.
27. Braghetta P, Ferrari A, Fabbro C, Bizzotto D, Volpin D, Bonaldo P, Bressan GM. An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells. Exp Cell Res 2008, 314:3508-3518. 10.1016/j.yexcr.2008.08.006, 18761340.
28. Girotto D, Fabbro C, Braghetta P, Vitale P, Volpin D, Bressan GM. Analysis of transcription of the Col6a1 gene in a specific set of tissues suggests a new variant of enhancer region. J Biol Chem 2000, 275:17381-17390. 10.1074/jbc.M000075200, 10747869.
29. Baldock C, Sherratt MJ, Shuttleworth CA, Kielty CM. The supramolecular organization of collagen VI microfibrils. J Mol Biol 2003, 330:297-307. 10.1016/S0022-2836(03)00585-0, 12823969.
30. Ball S, Bella J, Kielty C, Shuttleworth A. Structural basis of type VI collagen dimer formation. J Biol Chem 2003, 278:15326-15332. 10.1074/jbc.M209977200, 12473679.
31. Chu M, Conway D, Pan T, Baldwin C, Mann K, Deutzmann R, Timpl R. Amino acid sequence of the triple-helical domain of human collagen type VI. J Biol Chem 1988, 263:18601-18606.
32. Engel J, Furthmayr H, Odermatt E, Von Der Mark H, Aumailley M, Fleischmajer R, Timpl R. Structure and macromolecular organization of type VI collagen. Annals of the New York Academy of Sciences 1985, 460:25-37. 10.1111/j.1749-6632.1985.tb51154.x, 3938630.
33. Engvall E, Hessle H, Klier G. Molecular assembly, secretion, and matrix deposition of type VI collagen. J Cell Biol 1986, 102:703-710. 10.1083/jcb.102.3.703, 2114116, 3456350.
34. Furthmayr H, Wiedemann H, Timpl R, Odermatt E, Engel J. Electron-microscopical approach to a structural model of intima collagen. Biochem J 1983, 211:303-311. 1154360, 6307276.
35. Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends in Genet 2004, 20:33-43.
36. Risteli M, Ruotsalainen H, Salo AM, Sormunen R, Sipilä L, Baker NL, Lamande SR, Vimpari-Kauppinen L, Myllylä R. Reduction of Lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular Matrix. J Biol Chem 2009, 284:28204-28211. 10.1074/jbc.M109.038190, 2788872, 19696018.
37. Sipilä L, Ruotsalainen H, Sormunen R, Baker NL, Lamande SR, Vapola M, Wang C, Sado Y, Aszodi A, Myllylä R. Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines. J Biol Chem 2007, 282:33381-33388. 10.1074/jbc.M704198200, 17873278.
38. Allamand V, Merlini L, Bushby K. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromusc Disord 2010, 20:346-354. 10.1016/j.nmd.2010.02.012, 20211562.
39. Lampe AK, Bushby KMD. Collagen VI related muscle disorders. J Med Genet 2005, 42:673-685. 10.1136/jmg.2002.002311, 1736127, 16141002.
40. Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuroped 1981, 12:197-208.
41. Ullrich O. Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiteres Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. Z Gesamte Neurol Psychiat 1930, 126:171-201.
42. Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet P-Y, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto A, Lubieniecki F, et al. Early onset collagen VI myopathies: genetic and clinical correlations. Annals of Neurol 2010, 68:511-520.
43. Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009, 73:25-31. 10.1212/WNL.0b013e3181aae851, 19564581.
44. Bethlem J, Van Wijngaarden GK. Benign myopathy with autosomal dominant inheritance: a report of three pedigrees. Brain 1976, 99:91-100. 10.1093/brain/99.1.91, 963533.
45. De Visser M, van der Kooi AJ, Jobsis GJ. Bethlem myopathy. Myology 2004, 1135-1146. New York: McGraw-Hill, Franzini-Amstrong AGEaC.
46. Jobsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999, 122:649-655. 10.1093/brain/122.4.649, 10219778.
47. Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bonnemann CG. Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A 2005, 132:296-301.
48. Nalini A, Gayathri N. Bethlem myopathy: A study of two families. Neurol India 2010, 58:665-666. 10.4103/0028-3886.68684, 20739820.
49. Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Ben Yaou R, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromusc Disord 2002, 12:984-993. 10.1016/S0960-8966(02)00139-6, 12467756.
50. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008, 71:1245-1253. 10.1212/01.wnl.0000327611.01687.5e, 18852439.
51. Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002, 58:593-602.
52. Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186. 10.1093/brain/awp236, 19767415.
53. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007, 69:1035-1042. 10.1212/01.wnl.0000271387.10404.4e, 17785673.
54. Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamande SR, North KN. Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008, 71:312-321. 10.1212/01.wnl.0000284605.27654.5a, 18160674.
55. Bateman JF, Boot-Handford RP, Lamande SR. Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. Nat Rev Genet 2009, 10:173-183.
56. Voermans NC, Bönnemann CG, Huijing PA, Hamel BC, van Kuppevelt TH, de Haan A, Schalkwijk J, van Engelen BG, Jenniskens GJ. Clinical and molecular overlap between myopathies and inherited connective tissue diseases. Neuromusc Disord 2008, 18:843-856. 10.1016/j.nmd.2008.05.017, 18818079.
57. Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Annals of Neurol 2009, 65:687-697.
58. Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T. Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromusc Disord 2010, 20:517-523. 10.1016/j.nmd.2010.04.009, 20576434.
59. Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Annals of Neurol 2010, 67:201-208.
60. Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez C. Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromusc Disord 2003, 13:554-558. 10.1016/S0960-8966(03)00091-9, 12921792.
61. Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromusc Disord 2005, 15:303-310. 10.1016/j.nmd.2005.01.004, 15792870.
62. Bönnemann C, Brockmann K, Hanefeld F. Muscle ultrasound in Bethlem myopathy. Neuroped 2003, 34:335-336.
63. Kawahara G, Okada M, Morone N, Ibarra CA, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. Neurology 2007, 69:1043-1049. 10.1212/01.wnl.0000271386.89878.22, 17785674.
64. Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmuller H, Straub V, Bushby K. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008, 70:1192-1199. 10.1212/01.wnl.0000307749.66438.6d, 18378883.
65. Camacho Vanegas O, Bertini E, Zhang R-Z, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu M-F, Pepe G. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001, 98:7516-7521. 10.1073/pnas.121027598, 34700, 11381124.
66. Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi NM, Merlini L, Topaloglu H, Guicheney P. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Neuroped 2004, 35:103-112.
67. Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002, 70:1446-1458. 10.1086/340608, 419991, 11992252.
68. Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005, 14:279-293.
69. Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996, 14:113-115. 10.1038/ng0996-113, 8782832.
70. Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bonnemann CG. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromusc Disord 2009, 19:813-817. 10.1016/j.nmd.2009.09.010, 2787906, 19884007.
71. Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Autosomal recessive Bethlem myopathy. Neurology 2009, 73:1883-1891. 10.1212/WNL.0b013e3181c3fd2a, 19949035.
72. Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromusc Disord 1999, 9:264-271. 10.1016/S0960-8966(99)00014-0, 10399756.
73. Pepe G, de Visser M, Bertini E, Bushby K, Vanegas OC, Chu ML, Lattanzi G, Merlini L, Muntoni F, Urtizberea A. Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromusc Disord 2002, 12:296-305. 10.1016/S0960-8966(01)00275-9, 11801404.
74. Lamandé SR, Morgelin M, Selan C, Jobsis GJ, Baas F, Bateman JF. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 2002, 277:1949-1956. 10.1074/jbc.M109932200, 11707460.
75. Lamandé SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 1999, 274:21817-21822. 10.1074/jbc.274.31.21817, 10419498.
76. Pace R, Peat R, Baker N, Zamurs L, Mörgelin M, Irving M, Adams N, Bateman J, Mowat D, Smith N, Lamont P, Moore S, Mathews K, North K, Lamandé S. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of Neurol 2008, 64:294-303.
77. Sasaki T, Hohenester E, Zhang RZ, Gotta S, Speer MC, Tandan R, Timpl R, Chu ML. A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding. Faseb J 2000, 14:761-768.
78. Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJM, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RCM, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurol 2007, 9999:NA.
79. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bönnemann CG, Flanigan KM, Bushby KMD, Weiss RB. 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. 10.1136/jmg.2004.023754, 1736000, 15689448.
80. Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KMD, Bönnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Human Mut 2008, 29:809-822.
81. Lucioli S, Giusti B, Mercuri E, Camacho Vanegas O, Lucarini L, Pietroni V, Urtizberea J-A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann CG, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 2005, 64:1931-1937. 10.1212/01.WNL.0000163990.00057.66, 15955946.
82. Pan T, Zhang R, Sudano D, Marie S, Bönnemann C, Chu M. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003, 73:355-369. 10.1086/377107, 1180372, 12840783.
83. Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu M-L. A Heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the [alpha]1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Com 1999, 258:802-807. 10.1006/bbrc.1999.0680, 10329467.
84. Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol 2005, 58:400-410. 10.1002/ana.20586, 16130093.
85. Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromusc Disorders 2006, 16:571-582. 10.1016/j.nmd.2006.07.015, 16935502.
86. Lamandé SR, Sigalas E, Pan TC, Chu ML, Dziadek M, Timpl R, Bateman JF. The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)- deficient cell line. J Biol Chem 1998, 273:7423-7430. 10.1074/jbc.273.13.7423, 9516440.
87. Lucarini L, Giusti B, Zhang R-Z, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu M-L. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum Genet 2005, 117:460-466. 10.1007/s00439-005-1318-8, 16075202.
88. Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. Human Mut 2009, 30:E662-E672.
89. Peat RA, Baker NL, Jones KJ, North KN, Lamande SR. Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromusc Disorders 2007, 17:547-557. 10.1016/j.nmd.2007.03.017, 17537636.
90. Pepe G, Lucarini L, Zhang RZ, Pan T, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol 2006, 59:190-195. 10.1002/ana.20705, 16278855.
91. Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamande SR. Collagen VI microfibril formation is abolished by an alpha(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophy. J Biol Chem 2010,
92. Zhang R-Z, Zou Y, Pan T-C, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bonnemann CG, Chu M-L. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy. J Biol Chem 2010, 285:10005-10015. 10.1074/jbc.M109.093666, 2843164, 20106987.
93. Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annual Review of Biochemistry 2007, 76:51-74. 10.1146/annurev.biochem.76.050106.093909, 17352659.
94. Maquat LE, Carmichael GG. Quality control of mRNA function. Cell 2001, 104:173-176. 10.1016/S0092-8674(01)00202-1, 11207359.
95. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Medical Genetics 2010, 11:44. 2850895, 20302629.
96. Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG. Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy. Annals of Neurol 2011, 69:206-211.
97. Bonaldo P, Braghetta P, Zanetti M, Piccolo S, Volpin D, Bressan GM. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum Mol Genet 1998, 7:2135-2140. 10.1093/hmg/7.13.2135, 9817932.
98. Irwin W, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, Braghetta P, Columbaro M, Volpin D, Bressan G, Bernardi P, Bonaldo P. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 2003, 35:367-371. 10.1038/ng1270, 14625552.
99. Blaauw B, Agatea L, Toniolo L, Canato M, Quarta M, Dyar KA, Danieli-Betto D, Betto R, Schiaffino S, Reggiani C. Eccentric contractions lead to myofibrillar dysfunction in muscular dystrophy. J Applied Physiology 2010, 108:105-111.
100. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci USA 2007, 104:991-996. 10.1073/pnas.0610270104, 1783427, 17215366.
101. Bernardi P, Bonaldo P. Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. Annals of the New York Academy of Sciences 2008, 1147:303-311. 10.1196/annals.1427.009, 19076452.
102. Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD. Cyclosporine. A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132:147-155.
103. Howell SJ, Doane KJ. Type VI collagen increases cell survival and prevents anti-[beta]1integrin-mediated apoptosis. Exp Cell Res 1998, 241:230-241. 10.1006/excr.1998.4051, 9633532.
104. Ruhl M, Sahin E, Johannsen M, Somasundaram R, Manski D, Riecken EO, Schuppan D. Soluble collagen VI drives serum-starved fibroblasts through S Phase and prevents apoptosis via down-regulation of Bax. J Biol Chem 1999, 274:34361-34368. 10.1074/jbc.274.48.34361, 10567413.
105. Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B, Urciuolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010, 16:1313-1320. 10.1038/nm.2247, 21037586.
106. Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Zebrafish models of collagen VI-related myopathies. Hum Mol Genet 2010, 19:2433-2444. 10.1093/hmg/ddq126, 2876888, 20338942.
107. Kawahara G, Karpf JA, Myers JA, Alexander MS, Guyon JR, Kunkel LM. Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proc Natl Acad Sci USA 2011, 108:5331-5336. 10.1073/pnas.1102116108, 3069215, 21402949.
108. Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010, 25:1559-1581. 10.1177/0883073810381924, 21078917.
109. Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, Ferlini A, Maraldi NM, Bonaldo P, Bernardi P. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci USA 2008, 105:5225-5229. 10.1073/pnas.0800962105, 2278179, 18362356.
110. Maraldi NM, Sabatelli P, Columbaro M, Zamparelli A, Manzoli FA, Bernardi P, Bonaldo P, Merlini L. Collagen VI myopathies: From the animal model to the clinical trial. Advances in Enzyme Regulation 2009, 49:197-211. 10.1016/j.advenzreg.2008.12.009, 19162063.
111. Merlini L, Bernardi P. Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics 2008, 5:613-618. 10.1016/j.nurt.2008.08.004, 19019314.
112. Hansson MJ, Mattiasson G, Månsson R, Karlsson J, Keep MF, Waldmeier P, Ruegg UT, Dumont J-M, Besseghir K, Elmér E. The Nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. Journal of Bioenergetics and Biomembranes 2004, 36:407-413.
113. Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, Finetti F, Braghetta P, Vuagniaux G, Dumont JM, Baldari CT, Bonaldo P, Bernardi P. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice. British Journal of Pharmacology 2009, 157:1045-1052. 10.1111/j.1476-5381.2009.00316.x, 2737663, 19519726.
114. Erb M, Meinen S, Barzaghi P, Sumanovski LT, Courdier-Fruh I, Ruegg MA, Meier T. Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency. J Pharmacol Exp Ther 2009, 331:787-795. 10.1124/jpet.109.160754, 19759319.
115. Zingman LV, Park S, Olson TM, Alekseev AE, Terzic A. Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin Pharmacol Ther 2007, 81:99-103. 10.1038/sj.clpt.6100012, 17186006.