Cell-matrix interactions in muscle disease

Journal of Pathology

Volumn 226, Issue 2, 2012, Pages 200-218

  Carmignac, Virginie ^a   Durbeej, Madeleine ^a  

^a LUND UNIVERSITY   (Sweden)

Author keywords

cytoskeleton; disease; extracellular matrix; membrane; muscle; muscular dystrophy

Indexed keywords

3 METHYLADENINE; ALPHA SARCOGLYCAN; ALPHA7 INTEGRIN; ATALUREN; BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; BETA SARCOGLYCAN; BORTEZOMIB; CALPASTATIN; COLLAGEN TYPE 4; COLLAGEN TYPE 6; CORTICOSTEROID; CYCLOSPORIN A; DELTA SARCOGLYCAN; DOXYCYCLINE; DYSTROGLYCAN; DYSTROPHIN; EPSILON SARCOGLYCAN; GAMMA SARCOGLYCAN; GENTAMICIN; IBUPROFEN; LAMININ ALPHA2; LAMININ GAMMA1; MEROSIN; OMIGAPIL;

BECKER MUSCULAR DYSTROPHY; BETHLEM MYOPATHY; CELL INTERACTION; CELL MATRIX INTERACTION; CELL THERAPY; COLLAGEN VI DEFICIENT MUSCULAR DYSTROPHY; CORTICOSTEROID THERAPY; DUCHENNE MUSCULAR DYSTROPHY; DYSTROGLYCANOPATHY; DYSTROPHIN DEFICIENT MUSCULAR DYSTROPHY; EXON SKIPPING; EXTRACELLULAR MATRIX; GENE MUTATION; HUMAN; INTEGRIN ALPHA7 DEFICIENT MUSCULAR DYSTROPHY; LAMININ ALPHA2 CHAIN DEFECIENT MUSCULAR DYSTROPHY; LAMININ ALPHA2 CHAIN DEFICIENT MUSCULAR DYSTROPHY; MUSCLE DISEASE; NONHUMAN; PATHOGENESIS; PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; SARCOGLYCANOPATHY; STOP CODON; UNSPECIFIED SIDE EFFECT;

EID: 82755181721     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.3020     Document Type: Review

References (355)

1. Bruckner P,. Suprastructures of extracellular matrices: paradigms of functions controlled by aggregates rather than molecules. Cell Tissue Res 2010; 339: 7-18.
2. Van Agtmael T, Bruckner-Tuderman L,. Basement membranes and human disease. Cell Tissue Res 2010; 339: 167-188.
3. Miner JH,. Laminins and their roles in mammals. Microsc Res Tech 2008; 71: 349-356. (Pubitemid 351620857)
4. Collins J, Bonnemann CG,. Congenital muscular dystrophies: toward molecular therapeutic interventions. Curr Neurol Neurosci Rep 2010; 10: 83-91.
5. Dubowitz V,. Muscle Disorders in Childhood. WB Saunders: London, 1995.
6. Martin PT,. The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol 2005; 12: 152-158. (Pubitemid 43340146)
7. Michele DE, Barresi R, Kanagawa M, et al., Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002; 418: 417-422. (Pubitemid 34826841)
8. Barresi R, Campbell KP,. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 2006; 119: 199-207. (Pubitemid 43210689)
9. Pepe G, Bertini E, Bonaldo P, et al., Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 2002; 12: 984-993. (Pubitemid 35408680)
10. Brinas L, Richard P, Quijano-Roy S, et al., Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 2010; 68: 511-520.
11. Mercuri E, Yuva Y, Brown SC, et al., Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 2002; 58: 1354-1359. (Pubitemid 34507161)
12. Demir E, Ferreiro A, Sabatelli P, et al., Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Neuropediatrics 2004; 35: 103-112. (Pubitemid 38639317)
13. Hayashi YK, Chou FL, Engvall E, et al., Mutations in the integrin α7 gene cause congenital myopathy. Nat Genet 1998; 19: 94-97. (Pubitemid 28242033)
14. Helbling-Leclerc A, Zhang X, Topaloglu H, et al., Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216-218.
15. Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, et al., A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011; 364: 939-946.
16. Lampe AK, Bushby KM,. Collagen VI related muscle disorders. J Med Genet 2005; 42: 673-685. (Pubitemid 41306057)
17. Labelle-Dumais C, Dilworth DJ, Harrington EP, et al., COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 2011; 7: e1002062.
18. Godfrey C, Foley AR, Clement E, et al., Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011; 21: 278-285.
19. Ervasti JM, Campbell KP,. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993; 122: 809-823. (Pubitemid 23241091)
20. Petrof BJ, Shrager JB, Stedman HH, et al., Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 1993; 90: 3710-3714. (Pubitemid 23111437)
21. Blake DJ, Weir A, Newey SE, et al., Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002; 82: 291-329. (Pubitemid 34654455)
22. Ervasti JM, Ohlendieck K, Kahl SD, et al., Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345: 315-319.
23. Yoshida M, Ozawa E,. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990; 108: 748-752.
24. Rando TA,. The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve 2001; 24: 1575-1594. (Pubitemid 33101403)
25. Hoffman EP, Brown RH, Jr. , Kunkel LM,. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
26. Roberds SL, Leturcq F, Allamand V, et al., Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633. (Pubitemid 24268585)
27. Lim LE, Duclos F, Broux O, et al., β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257-265.
28. Bonnemann CG, Modi R, Noguchi S, et al., β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995; 11: 266-273.
29. Noguchi S, McNally EM, Ben Othmane K, et al., Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
30. Nigro V, de Sa Moreira E, Piluso G, et al., Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996; 14: 195-198. (Pubitemid 26338803)
31. Jung D, Yang B, Meyer J, et al., Identification and characterization of the dystrophin anchoring site on β-dystroglycan. J Biol Chem 1995; 270: 27305-27310.
32. Miner JH, Yurchenco PD,. Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol 2004; 20: 255-284. (Pubitemid 39488639)
33. Tzu J, Marinkovich MP,. Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol 2008; 40: 199-214. (Pubitemid 350137873)
34. Macdonald PR, Lustig A, Steinmetz MO, et al., Laminin chain assembly is regulated by specific coiled-coil interactions. J Struct Biol 2011; 170: 398-405.
35. Colognato H, Yurchenco PD,. The laminin α2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers. Curr Biol 1999; 9: 1327-1330.
36. Li S, Harrison D, Carbonetto S, et al., Matrix assembly, regulation, and survival functions of laminin and its receptors in embryonic stem cell differentiation. J Cell Biol 2002; 157: 1279-1290. (Pubitemid 34847796)
37. Vachon PH, Loechel F, Xu H, et al., Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J Cell Biol 1996; 134: 1483-1497. (Pubitemid 26318020)
38. Willem M, Miosge N, Halfter W, et al., Specific ablation of the nidogen-binding site in the laminin γ1 chain interferes with kidney and lung development. Development 2002; 129: 2711-2722. (Pubitemid 34874254)
39. Sasaki T, Fassler R, Hohenester E,. Laminin: the crux of basement membrane assembly. J Cell Biol 2004; 164: 959-963. (Pubitemid 38429121)
40. Ho MS, Bose K, Mokkapati S, et al., Nidogens-extracellular matrix linker molecules. Microsc Res Tech 2008; 71: 387-395. (Pubitemid 351620861)
41. Gersdorff N, Kohfeldt E, Sasaki T, et al., Laminin γ3 chain binds to nidogen and is located in murine basement membranes. J Biol Chem 2005; 280: 22146-22153. (Pubitemid 40827870)
42. Brown JC, Wiedemann H, Timpl R,. Protein binding and cell adhesion properties of two laminin isoforms (AmB1eB2e, AmB1sB2e) from human placenta. J Cell Sci 1994; 107: 329-338. (Pubitemid 24039058)
43. Sewry CA, Philpot J, Mahony D, et al., Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 1995; 5: 307-316.
44. Lisi MT, Cohn RD,. Congenital muscular dystrophies: New aspects of an expanding group of disorders. Biochim Biophys Acta 2007; 1772: 159-172. (Pubitemid 46123916)
45. Jimenez-Mallebrera C, Brown SC, Sewry CA, et al., Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci 2005; 62: 809-823. (Pubitemid 40655631)
46. Allamand V, Guicheney P,. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin). Eur J Hum Genet 2002; 10: 91-94. (Pubitemid 34414041)
47. North KN, Specht LA, Sethi RK, et al., Congenital muscular dystrophy associated with merosin deficiency. J Child Neurol 1996; 11: 291-295. (Pubitemid 26234446)
48. Philpot J, Sewry C, Pennock J, et al., Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995; 5: 301-305.
49. Geranmayeh F, Clement E, Feng LH, et al., Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010; 20: 241-250.
50. Di Blasi C, Mora M, Pareyson D, et al., Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis. Ann Neurol 2000; 47: 811-816. (Pubitemid 30390204)
51. Oliveira J, Santos R, Soares-Silva I, et al., LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clin Genet 2008; 74: 502-512.
52. Tezak Z, Prandini P, Boscaro M, et al., Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency. Hum Mutat 2003; 21: 103-111. (Pubitemid 36184131)
53. Xu H, Christmas P, Wu XR, et al., Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 1994; 91: 5572-5576. (Pubitemid 24174370)
54. Kuang W, Xu H, Vilquin JT, et al., Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin α2-deficiency. Lab Invest 1999; 79: 1601-1613. (Pubitemid 30013925)
55. Hayashi YK, Tezak Z, Momoi T, et al., Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001; 11: 350-359. (Pubitemid 32448081)
56. Vachon PH, Xu H, Liu L, et al., Integrins (α7β1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest 1997; 100: 1870-1881. (Pubitemid 27431347)
57. Langenbach KJ, Rando TA,. Inhibition of dystroglycan binding to laminin disrupts the PI3K/AKT pathway and survival signaling in muscle cells. Muscle Nerve 2002; 26: 644-653. (Pubitemid 35266088)
58. Han R, Kanagawa M, Yoshida-Moriguchi T, et al., Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan. Proc Natl Acad Sci USA 2009; 106: 12573-12579.
59. Carmignac V, Quere R, Durbeej M,. Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice. Hum Mol Genet 2011; 20: 541-552.
60. Carmignac V, Svensson M, Körner Z, et al., Autophagy is increased in laminin α2 chain deficient muscle and inhibition improves muscle morphology in a mouse model of MDC1A. Hum Mol Genet 2011; (in press).
61. Khoshnoodi J, Pedchenko V, Hudson BG,. Mammalian collagen IV. Microsc Res Tech 2008; 71: 357-370. (Pubitemid 351620858)
62. Kadler KE, Baldock C, Bella J, et al., Collagens at a glance. J Cell Sci 2007; 120: 1955-1958. (Pubitemid 47009991)
63. Eble JA, Golbik R, Mann K, et al., The α1β1 integrin recognition site of the basement membrane collagen molecule [α1(IV)]2 α2(IV). EMBO J 1993; 12: 4795-4802. (Pubitemid 23330285)
64. Leitinger B, Hohenester E,. Mammalian collagen receptors. Matrix Biol 2007; 26: 146-155. (Pubitemid 46401227)
65. Paulsson M,. Basement membrane proteins: structure, assembly, and cellular interactions. Crit Rev Biochem Mol Biol 1992; 27: 93-127.
66. Tiger CF, Fougerousse F, Grundstrom G, et al., α11β1 integrin is a receptor for interstitial collagens involved in cell migration and collagen reorganization on mesenchymal nonmuscle cells. Dev Biol 2001; 237: 116-129. (Pubitemid 32844310)
67. Tulla M, Pentikainen OT, Viitasalo T, et al., Selective binding of collagen subtypes by integrin α1I, α2I, and α10I domains. J Biol Chem 2001; 276: 48206-48212.
68. Vogel W, Gish GD, Alves F, et al., The discoidin domain receptor tyrosine kinases are activated by collagen. Mol Cell 1997; 1: 13-23. (Pubitemid 127376389)
69. Aumailley M, Wiedemann H, Mann K, et al., Binding of nidogen and the laminin-nidogen complex to basement membrane collagen type IV. Eur J Biochem 1989; 184: 241-248. (Pubitemid 19229241)
70. Hopf M, Gohring W, Kohfeldt E, et al., Recombinant domain IV of perlecan binds to nidogens, laminin-nidogen complex, fibronectin, fibulin-2 and heparin. Eur J Biochem 1999; 259: 917-925. (Pubitemid 29075524)
71. Van Agtmael T, Bailey MA, Schlotzer-Schrehardt U, et al., Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Hum Mol Genet 2010; 19: 1119-1128.
72. Vahedi K, Kubis N, Boukobza M, et al., COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 2007; 38: 1461-1464. (Pubitemid 46684145)
73. Vahedi K, Alamowitch S,. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 2011; 24: 63-68.
74. Sibon I, Coupry I, Menegon P, et al., COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 2007; 62: 177-184. (Pubitemid 47546503)
75. Shah S, Kumar Y, McLean B, et al., A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Eur J Paediatr Neurol 2010; 14: 182-187.
76. Rouaud T, Labauge P, Tournier Lasserve E, et al., Acute urinary retention due to a novel collagen COL4A1 mutation. Neurology 2010; 75: 747-749.
77. Plaisier E, Gribouval O, Alamowitch S, et al., COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007; 357: 2687-2695.
78. Plaisier E, Chen Z, Gekeler F, et al., Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Am J Med Genet 2010; 152A: 2550-2555.
79. Meuwissen ME, de Vries LS, Verbeek HA, et al., Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011; 76: 844-846.
80. Gould DB, Phalan FC, van Mil SE, et al., Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006; 354: 1489-1496.
81. Gould DB, Phalan FC, Breedveld GJ, et al., Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308: 1167-1171. (Pubitemid 40696433)
82. Gould DB, Marchant JK, Savinova OV, et al., Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet 2007; 16: 798-807. (Pubitemid 47061626)
83. Firtina Z, Danysh BP, Bai X, et al., Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. J Biol Chem 2009; 284: 35872-35884.
84. Favor J, Gloeckner CJ, Janik D, et al., Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics 2007; 175: 725-736. (Pubitemid 46798271)
85. de Vries LS, Koopman C, Groenendaal F, et al., COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009; 65: 12-18.
86. Breedveld G, de Coo IF, Lequin MH, et al., Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 2006; 43: 490-495. (Pubitemid 43927322)
87. Bilguvar K, DiLuna ML, Bizzarro MJ, et al., COL4A1 mutation in preterm intraventricular hemorrhage. J Pediatr 2009; 155: 743-745.
88. Alamowitch S, Plaisier E, Favrole P, et al., Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73: 1873-1882.
89. Zou Y, Zhang RZ, Sabatelli P, et al., Muscle interstitial fibroblasts are the mains 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.
90. Ishikawa H, Sugie K, Murayama K, et al., Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. Neurology 2002; 59: 920-923.
91. Niiyama T, Higuchi I, Suehara M, et al., Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease. Acta Neuropathol 2002; 104: 67-71. (Pubitemid 36075360)
92. Caldwell CJ, Mattey DL, Weller RO,. Role of the basement membrane in the regeneration of skeletal muscle. Neuropathol Appl Neurobiol 1990; 16: 225-238. (Pubitemid 20222898)
93. Irwin WA, Bergamin N, Sabatelli P, et al., Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 2003; 35: 367-371. (Pubitemid 37486921)
94. Fitzgerald J, Rich C, Zhou FH, et al., Three novel collagen VI chains. α4 (VI), α5 (VI), and α6 (VI). J Biol Chem 2008; 283: 20170-20180.
95. Bonaldo P, Russo V, Bucciotti F, et al., α1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains. J Biol Chem 1989; 264: 5575-5580. (Pubitemid 19098013)
96. Zhang RZ, Sabatelli P, Pan TC, et al., Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem 2002; 277: 43557-43564. (Pubitemid 36157768)
97. Bruns RR, Press W, Engvall E, et al., Type VI collagen in extracellular, 100 nm periodic filaments and fibrils: identification by immunoelectron microscopy. J Cell Biol 1986; 103: 393-404. (Pubitemid 16055036)
98. Kuo HJ, Maslen CL, Keene DR, et al., Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 1997; 272: 26522-26529. (Pubitemid 27458872)
99. Bidanset DJ, Guidry C, Rosenberg LC, et al., Binding of the proteoglycan decorin to collagen type VI. J Biol Chem 1992; 267: 5250-5256.
100. Tillet E, Gential B, Garrone R, et al., NG2 proteoglycan mediates β1 integrin-independent cell adhesion and spreading on collagen VI. J Cell Biochem 2002; 86: 726-736. (Pubitemid 34839974)
101. Sabatelli P, Bonaldo P, Lattanzi G, et al., Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol 2001; 20: 475-486. (Pubitemid 33016384)
102. Wiberg C, Heinegard D, Wenglen C, et al., Biglycan organizes collagen VI into hexagonal-like networks resembling tissue structures. J Biol Chem 2002; 277: 49120-49126. (Pubitemid 36014340)
103. Wiberg C, Hedbom E, Khairullina A, 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.
104. Bethlem J, Wijngaarden GK,. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain 1976; 99: 91-100.
105. Lampe AK, Zou Y, Sudano D, et al., Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 2008; 29: 809-822. (Pubitemid 351794132)
106. Jimenez-Mallebrera C, Maioli MA, Kim J, et al., 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. Neuromuscul Disord 2006; 16: 571-582. (Pubitemid 44374327)
107. Okada M, Kawahara G, Noguchi S, et al., Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007; 69: 1035-1042. (Pubitemid 47366058)
108. Grumati P, Coletto L, Sabatelli P, et al., Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16: 1313-1320.
109. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al., Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992; 355: 696-702.
110. Gesemann M, Cavalli V, Denzer AJ, et al., Alternative splicing of agrin alters its binding to heparin, dystroglycan, and the putative agrin receptor. Neuron 1996; 16: 755-767. (Pubitemid 26124053)
111. Talts JF, Andac Z, Gohring W, et al., Binding of the G domains of laminin α1 and α2 chains and perlecan to heparin, sulfatides, α-dystroglycan and several extracellular matrix proteins. EMBO J 1999; 18: 863-870. (Pubitemid 29082266)
112. Sugita S, Saito F, Tang J, et al., A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol 2001; 154: 435-445. (Pubitemid 34286152)
113. Sato S, Omori Y, Katoh K, et al., Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci 2008; 11: 923-931.
114. Brancaccio A, Schulthess T, Gesemann M, et al., Electron microscopic evidence for a mucin-like region in chick muscle α-dystroglycan. FEBS Lett 1995; 368: 139-142.
115. Yoshida-Moriguchi T, Yu L, Stalnaker SH, et al., O-Mannosyl phosphorylation of α-dystroglycan is required for laminin binding. Science 2010; 327: 88-92.
116. Kanagawa M, Saito F, Kunz S, et al., Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 2004; 117: 953-964. (Pubitemid 38798860)
117. Saito F, Saito-Arai Y, Nakamura A, et al., Processing and secretion of the N-terminal domain of α-dystroglycan in cell culture media. FEBS Lett 2008; 582: 439-444.
118. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al., Mutations in the O-mannosyltransferase genePOMT1 give rise to the severe neuronal migration disorder Walker-Warberg syndrome. Am J Hum Genet 2002; 71: 1033-1043. (Pubitemid 35305223)
119. van Reeuwijk J, Janssen M, van den Elzen C, et al., POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005; 42: 907-912. (Pubitemid 41811312)
120. Yoshida A, Kobayashi K, Manya H, et al., Muscular dystrophy and neuronal migration disorder caused by mutations in a gycosyltransferase POMGnT1. Dev Cell 2001; 1: 717-724. (Pubitemid 33586123)
121. Kobayashi K, Nakahori Y, Miyake M, et al., An ancient tetrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-392. (Pubitemid 28373837)
122. Brockington M, Blake DJ, Prandini P, et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Genet 2001; 69: 1198-2109.
123. Longman C, Brockington M, Torelli S, et al., Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation. Hum Mol Genet 2003; 12: 2853-2861. (Pubitemid 37407122)
124. van Reeuwijk J, Grewal PK, Salih MA, et al., Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007; 121: 685-690. (Pubitemid 46916967)
125. Godfrey C, Clement E, Mein R, et al., Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735. (Pubitemid 47511718)
126. Jimenez-Mallebrera C, Torelli S, Feng L, et al., A comparative study of α-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of α-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009; 19: 596-611.
127. Kanagawa M, Michele DE, Satz JS, et al., Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett 2005; 579: 4792-4796. (Pubitemid 41218665)
128. Liu S, Calderwood DA, Ginsberg MH,. Integrin cytoplasmic domain-binding proteins. J Cell Sci 2000; 113: 3563-3571.
129. Campbell ID, Humphries MJ,. Integrin structure, activation, and interactions. Cold Spring Harb Perspect Biol 2011; 3: pii a004994.
130. Burkin DJ, Kaufman SJ,. The α7β1 integrin in muscle development and disease. Cell Tissue Res 1999; 296: 183-190.
131. Vignier N, Moghadaszadeh B, Gary F, et al., Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin α7 gene (ITGA7). Biochem Biophys Res Commun 1999; 260: 357-364. (Pubitemid 29352070)
132. von der Mark H, Williams I, Wendler O, et al., Alternative splice variants of α7β1 integrin selectively recognize different laminin isoforms. J Biol Chem 2002; 277: 6012-6016. (Pubitemid 34968384)
133. Martin PT, Kaufman SJ, Kramer RH, et al., Synaptic integrins in developing, adult, and mutant muscle: selective association of α1, α7A, and α7B integrins with the neuromuscular junction. Dev Biol 1996; 174: 125-139.
134. Mayer U, Saher G, Fassler R, et al., Absence of integrin α7 causes a novel form of muscular dystrophy. Nat Genet 1997; 17: 318-323. (Pubitemid 27475996)
135. Guo C, Willem M, Werner A, et al., Absence of α7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. Hum Mol Genet 2006; 15: 989-998. (Pubitemid 43338239)
136. Rooney JE, Welser JV, Dechert MA, et al., Severe muscular dystrophy in mice that lack dystrophin and α7 integrin. J Cell Sci 2006; 119: 2185-2195. (Pubitemid 43960308)
137. Saher G, Hildt E,. Activation of c-Raf-1 kinase signal transduction pathway in α(7) integrin-deficient mice. J Biol Chem 1999; 274: 27651-27657.
138. Wang HV, Chang LW, Brixius K, et al., Integrin-linked kinase stabilizes myotendinous junctions and protects muscle from stress-induced damage. J Cell Biol 2008; 180: 1037-1049. (Pubitemid 351398427)
139. Cohn RD, Mayer U, Saher G, et al., Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. J Neurol Sci 1999; 163: 140-152. (Pubitemid 29234237)
140. Hodges BL, Hayashi YK, Nonaka I, et al., Altered expression of the α7β1 integrin in human and murine muscular dystrophies. J Cell Sci 1997; 110: 2873-2881. (Pubitemid 27514116)
141. Koenig M, Monaco AP, Kunkel LM,. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53: 219-228.
142. Rybakova IN, Amann KJ, Ervasti JM,. A new model for the interaction of dystrophin with F-actin. J Cell Biol 1996; 135: 661-672. (Pubitemid 26372923)
143. Lai Y, Thomas GD, Yue Y, et al., Dystrophin carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest 2009; 119: 634-635.
144. Rentschler S, Linn H, Deininger K, et al., The WW domain of dystrophin requires EF-hands region to interact with beta-dystroglycan. Biol Chem 1999; 380: 431-442. (Pubitemid 29204312)
145. Suzuki A, Yoshida M, Ozawa E,. Mammalian α1- and β1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus. J Cell Biol 1995; 128: 373-381.
146. Yang B, Jung D, Rafael JA, et al., Identification of α-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem 1995; 270: 4975-4978.
147. Ahn AH, Kunkel LM,. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol 1995; 128: 363-371.
148. Sadoulet-Puccio HM, Rajala M, Kunkel LM,. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci USA 1997; 94: 12413-12418. (Pubitemid 27492542)
149. Tokarz SA, Duncan NM, Rash SM, et al., Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of Duchenne muscular dystrophy. Mol Genet Metab 1998; 65: 272-281. (Pubitemid 29029543)
150. Blake DJ, Tinsley JM, Davies KE,. Utrophin: a structural and functional comparison to dystrophin. Brain Pathol 1996; 6: 37-47. (Pubitemid 26078653)
151. Tinsley JM, Blake DJ, Roche A, et al., Primary structure of dystrophin-related protein. Nature 1992; 360: 591-593. (Pubitemid 23000709)
152. Davies KE, Smith TJ, Bundey S, et al., Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J Med Genet 1988; 25: 9-13. (Pubitemid 18042294)
153. Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, et al., Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet 1991; 48: 295-304. (Pubitemid 21891593)
154. Arahata K, Beggs AH, Honda H, et al., Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 1991; 101: 148-156.
155. Magri F, Govoni A, D'Angelo MG, et al., Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 2011; 258: 1610-1623.
156. Comi GP, Prelle A, Bresolin N, et al., Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994; 117: 1-14. (Pubitemid 24103380)
157. Beggs AH, Hoffman EP, Snyder JR, et al., Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991; 49: 54-67. (Pubitemid 21891653)
158. Sander M, Chavoshan B, Harris SA, et al., Functonal muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci USA 2000; 97: 13818-13823.
159. Kobayashi YM, Rader EP, Crawford RW, et al., Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature 2008; 456: 511-515. (Pubitemid 352759004)
160. Chan YM, Bonnemann CG, Lidov HG, et al., Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol 1998; 143: 2033-2044. (Pubitemid 29022622)
161. Holt KH, Campbell KP,. Assembly of the sarcoglycan complex. Insights for muscular dystrophy. J Biol Chem 1998; 273: 34667-34670. (Pubitemid 29028151)
162. Straub V, Ettinger AJ, Durbeej M, et al., ε-Sarcoglycan replaces α-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem 1999; 274: 27989-27996.
163. Wheeler MT, Zarnegar S, McNally EM,. ζ-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet 2002; 11: 2147-2154. (Pubitemid 34994003)
164. Sandonà D, Betto R,. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 2009; 11: e28.
165. Angelini C, Fanin M, Freda MP, et al., The clinical spectrum of sarcoglycanopathies. Neurology 1999; 52: 176-179. (Pubitemid 29044421)
166. Durbeej M, Cohn RD, Hrstka RF, et al., Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000; 5: 141-151. (Pubitemid 30105443)
167. Straub V, Duclos F, Venzke DP, et al., Molecular pathogenesis of muscle degeneration in the δ-sarcoglycan-deficient hamster. Am J Pathol 1998; 153: 1623-1630. (Pubitemid 28509920)
168. Coral-Vazquez R, Cohn RD, Moore SA, et al., Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999; 98: 465-474. (Pubitemid 29402484)
169. Wheeler MT, Allikian MJ, Heydemann A, et al., Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J Clin Invest 2004; 113: 668-675. (Pubitemid 38544159)
170. Millay DP, Sargent MA, Osinska H, et al., Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med 2008; 14: 442-447. (Pubitemid 351499389)
171. Blain AM, Straub VW,. δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches. Skeletal Muscle 2011; 1: 13.
172. Mendell JR, Rodino-Klapac LR, Malik V,. Molecular therapeutic strategies targeting Duchenne muscular dystrophy. J Child Neurol 2010; 25: 1145-1148.
173. Fadic R, Mezzano V, Alvarez K, et al., Increase in decorin and biglycan in Duchenne muscular dystrophy: role of fibroblasts as cell source of these proteoglycans in the disease. J Cell Mol Med 2006; 10: 758-769. (Pubitemid 44874284)
174. Alvarez K, Fadic R, Brandan E,. Augmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophy. J Cell Biochem 2002; 85: 703-713. (Pubitemid 34462781)
175. Caceres S, Cuellar C, Casar JC, et al., Synthesis of proteoglycans is augmented in dystrophic mdx mouse skeletal muscle. Eur J Cell Biol 2000; 79: 173-181. (Pubitemid 30179501)
176. Amenta AR, Yilmaz A, Bogdanovich S, et al., Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in max mice. Proc Natl Acad Sci USA 2011; 108: 762-767.
177. Cornelison DDW, Wilcox-Adelman SA, Goetinck PF, et al., Essential and separable roles for syndecan-3 and syndecan-4 in skeletal muscle development and regeneration. Genes Dev 2004; 18: 2231-2236. (Pubitemid 39209570)
178. Moll J, Barzaghi P, Lin S, et al., An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001; 413: 302-307. (Pubitemid 32905850)
179. Bentzinger CF, Barzaghi P, Lin S, et al., Overexpression of mini-agrin in skeletal muscle increases muscle integrity and regenerative capacity in laminin-α2-deficient mice. FASEB J 2005; 19: 934-942. (Pubitemid 40827714)
180. Qiao C, Li J, Zhu T, et al., Amelioration of laminin-α2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. Proc Natl Acad Sci USA 2005; 102: 11999-12004. (Pubitemid 41291118)
181. Gawlik KI, Li JY, Petersen A, et al., Laminin α1 chain improves laminin α2 chain deficient peripheral neuropathy. Hum Mol Genet 2006; 15: 2690-2700. (Pubitemid 44400396)
182. Gawlik KI, Durbeej M,. Transgenic overexpression of laminin α1 chain in laminin α2 chain-deficient mice rescues the disease throughout the lifespan. Muscle Nerve 2010; 42: 30-37.
183. Gawlik K, Miyagoe-Suzuki Y, Ekblom P, et al., Laminin α1 chain reduces muscular dystrophy in laminin α2 chain deficient mice. Hum Mol Genet 2004; 13: 1775-1784. (Pubitemid 39173446)
184. Kuang W, Xu H, Vachon PH, et al., Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. J Clin Invest 1998; 102: 844-852. (Pubitemid 28399618)
185. Kumar A, Yamauchi J, Girgenrath T, et al., Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. Hum Mol Genet 2011; 20: 2333-2343.
186. Doe JA, Wuebbles RD, Allred ET, et al., Transgenic overexpression of the α7 integrin reduces muscle pathology and improves viability in the dyW mouse model of merosin-deficient congenital muscular dystrophy type 1A. J Cell Sci 2011; 124: 2287-2297.
187. Xu R, Chandrasekharan K, Yoon JH, et al., Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A. Am J Pathol 2007; 171: 181-199. (Pubitemid 47339238)
188. Girgenrath M, Dominov JA, Kostek CA, et al., Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. J Clin Invest 2004; 114: 1635-1639. (Pubitemid 40385554)
189. Erb M, Meinen S, Barzaghi P, et al., Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-α2 deficiency. J Pharmacol Exp Ther 2009; 331: 787-795.
190. Girgenrath M, Beermann ML, Vishnudas VK, et al., Pathology is alleviated by doxycycline in a laminin-α2-null model of congenital muscular dystrophy. Ann Neurol 2009; 65: 47-56.
191. Allamand V, Bidou L, Arakawa M, et al., Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes. J Gene Med 2008; 10: 217-224. (Pubitemid 351267163)
192. Hagiwara H, Ohsawa Y, Asakura S, et al., Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy. FEBS Lett 2006; 580: 4463-4468. (Pubitemid 44160508)
193. Fukada S, Yamamoto Y, Segawa M, et al., CD90-positive cells, an additional cell population, produce laminin α2 upon transplantation to dy(3k)/dy(3k) mice. Exp Cell Res 2008; 314: 193-203. (Pubitemid 350180787)
194. Angelin A, Tiepolo T, Sabatelli P, et al., Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci USA 2007; 104: 991-996. (Pubitemid 46154724)
195. Hicks D, Lampe AK, Laval SH, et al., Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009; 132: 147-155.
196. Merlini L, Angelin A, Tiepolo T, et al., Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci USA 2008; 105: 5225-5229. (Pubitemid 351738538)
197. -/- myopathic mice. Br J Pharmacol 2009; 157: 1045-1052.
198. Usuki F, Yamashita A, Kashima I, et al., Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. Mol Ther 2006; 14: 351-360. (Pubitemid 44184971)
199. Barresi R, Michele DE, Kanagawa M, et al., LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 2004; 10: 696-703. (Pubitemid 38937634)
200. Rooney JE, Gurpur PB, Yablonka-Reuveni Z, et al., Laminin-111 restores regenerative capacity in a mouse model for α7 integrin congenital myopathy. Am J Pathol 2009; 174: 256-264.
201. Phelps SF, Hauser MA, Cole NM, et al., Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 1995; 4: 1251-1258.
202. Cox GA, Cole NM, Matsumura K, et al., Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 1993; 364: 725-729. (Pubitemid 23273127)
203. Wells DJ, Wells KE, Asante EA, et al., Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 1995; 4: 1245-1250.
204. Fassati A, Wells DJ, Sgro Serpente PA, et al., Genetic correction of dystrophin deficiency and skeletal muscle remodeling in adult MDX mouse via transplantation of retroviral producer cells. J Clin Invest 1997; 100: 620-628. (Pubitemid 27340510)
205. Harper SQ, Hauser MA, DelloRusso C, et al., Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med 2002; 8: 253-261. (Pubitemid 34250103)
206. Gregorevic P, Blankinship MJ, Allen JM, et al., Systemic delivery of genes to striated muscle using adeno-associated viral vectors. Nat Med 2004; 10: 828-834. (Pubitemid 39070856)
207. Gregorevic P, Allen JM, Minami E, et al., rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med 2006; 12: 787-789. (Pubitemid 44050067)
208. Wang Z, Kuhr CS, Allen JM, et al., Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression. Mol Ther 2007; 15: 1160-1166. (Pubitemid 46813619)
209. Wang B, Li J, Qiao C, et al., A canine minidystrophin is functional and therapeutic in mdx mice. Gene Ther 2008; 15: 1099-1106. (Pubitemid 352006080)
210. Rodino-Klapac LR, Montgomery CL, Bremer WG, et al., Persistent expression of FLAG-tagged micro-dystrophin in nonhuman primates following intramuscular and vascular delivery. Mol Ther 2010; 18: 109-117.
211. Mendell JR, Campbell K, Rodino-Klapac L, et al., Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010; 363: 1429-1437.
212. Koppanati BM, Li J, Reay DP, et al., Improvement of the mdx mouse dystrophic phenotype by systemic in utero AAV8 delivery of a minidystrophin gene. Gene Ther 2010; 17: 1355-1362.
213. Kobinger GP, Louboutin JP, Barton ER, et al., Correction of the dystrophic phenotype by in vivo targeting of muscle progenitor cells. Hum Gene Ther 2003; 14: 1441-1449. (Pubitemid 37268222)
214. Kimura E, Li S, Gregorevic P, et al., Dystrophin delivery to muscles of mdx mice using lentiviral vectors leads to myogenic progenitor targeting and stable gene expression. Mol Ther 2010; 18: 206-213.
215. Bachrach E, Li S, Perez AL, et al., Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. Proc Natl Acad Sci USA 2004; 101: 3581-3586. (Pubitemid 38338238)
216. Sampaolesi M, Blot S, D'Antona G, et al., Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature 2006; 444: 574-579. (Pubitemid 44864430)
217. Quenneville SP, Chapdelaine P, Skuk D, et al., Autologous transplantation of muscle precursor cells modified with a lentivirus for muscular dystrophy: human cells and primate models. Mol Ther 2007; 15: 431-438. (Pubitemid 46111895)
218. Quenneville SP, Chapdelaine P, Rousseau J, et al., Dystrophin expression in host muscle following transplantation of muscle precursor cells modified with the phiC31 integrase. Gene Ther 2007; 14: 514-522. (Pubitemid 46390924)
219. Pichavant C, Chapdelaine P, Cerri DG, et al., Expression of dog microdystrophin in mouse and dog muscles by gene therapy. Mol Ther 2010; 18: 1002-1009.
220. Benchaouir R, Meregalli M, Farini A, et al., Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice. Cell Stem Cell 2007; 1: 646-657. (Pubitemid 350225348)
221. Tinsley J, Deconinck N, Fisher R, et al., Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Nat Med 1998; 4: 1441-1444. (Pubitemid 28553471)
222. Tinsley JM, Potter AC, Phelps SR, et al., Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 1996; 384: 349-353. (Pubitemid 26408514)
223. Krag TO, Bogdanovich S, Jensen CJ, et al., Heregulin ameliorates the dystrophic phenotype in mdx mice. Proc Natl Acad Sci USA 2004; 101: 13856-13860. (Pubitemid 39298497)
224. Sonnemann KJ, Heun-Johnson H, Turner AJ, et al., Functional substitution by TAT-utrophin in dystrophin-deficient mice. PLoS Med 2009; 6: e1000083.
225. Peter AK, Marshall JL, Crosbie RH,. Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex. J Cell Biol 2008; 183: 419-427.
226. Liu J, Burkin DJ, Kaufman SJ,. Increasing α7β1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression. Am J Physiol Cell Physiol 2008; 294: C627-640. (Pubitemid 351264414)
227. Nguyen HH, Jayasinha V, Xia B, et al., Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice. Proc Natl Acad Sci USA 2002; 99: 5616-5621. (Pubitemid 34411598)
228. Xu R, Camboni M, Martin PT,. Postnatal overexpression of the CT GalNAc transferase inhibits muscular dystrophy in mdx mice without altering muscle growth or neuromuscular development: evidence for a utrophin-independent mechanism. Neuromusc Disord 2007; 17: 209-220. (Pubitemid 46413759)
229. Moghadaszadeh B, Albrechtsen R, Guo LT, et al., Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased α7 integrin, utrophin and associated glycoproteins. Hum Mol Genet 2003; 12: 2467-2479. (Pubitemid 37220411)
230. Kronqvist P, Kawaguchi N, Albrechtsen R, et al., ADAM12 alleviates the skeletal muscle pathology in mdx dystrophic mice. Am J Pathol 2002; 161: 1535-1540. (Pubitemid 35265513)
231. Tidball JG, Wehling-Henricks M,. Expression of a NOS transgene in dystrophin-deficient muscle reduces muscle membrane damage without increasing the expression of membrane-associated cytoskeletal proteins. Mol Genet Metab 2004; 82: 312-320. (Pubitemid 39078711)
232. Wehling M, Spencer MJ, Tidball JG,. A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J Cell Biol 2001; 155: 123-131. (Pubitemid 34286213)
233. Spencer MJ, Mellgren RL,. Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. Hum Mol Genet 2002; 11: 2645-2655. (Pubitemid 35174694)
234. Morine KJ, Sleeper MM, Barton ER, et al., Overexpression of SERCA1a in the mdx diaphragm reduces susceptibility to contraction-induced damage. Hum Gene Ther 2010; 21: 1735-1739.
235. Barton-Davis ER, Cordier L, Shoturma DI, et al., Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999; 104: 375-381. (Pubitemid 29534321)
236. Wagner KR, Hamed S, Hadley DW, et al., Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001; 49: 706-711. (Pubitemid 32530236)
237. Politano L, Nigro G, Nigro V, et al., Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol 2003; 22: 15-21. (Pubitemid 36966404)
238. Dunant P, Walter MC, Karpati G, et al., Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003; 27: 624-627. (Pubitemid 36523523)
239. Arakawa M, Shiozuka M, Nakayama Y, et al., Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J Biochem 2003; 134: 751-758. (Pubitemid 38031275)
240. Malik V, Rodino-Klapac LR, Viollet L, et al., Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010; 67: 771-780.
241. Welch EM, Barton ER, Zhuo J, et al., PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87-91. (Pubitemid 46685839)
242. Finkel RS,. Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 2010; 25: 1158-1164.
243. Lu QL, Mann CJ, Lou F, et al., Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003; 9: 1009-1014. (Pubitemid 37021780)
244. Lu QL, Rabinowitz A, Chen YC, et al., Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles. Proc Natl Acad Sci USA 2005; 102: 198-203. (Pubitemid 40094452)
245. Heemskerk H, de Winter C, van Kuik P, et al., Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther 2010; 18: 1210-1217.
246. Heemskerk HA, de Winter CL, de Kimpe SJ, et al., In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med 2009; 11: 257-266.
247. Goemans NM, Tulinius M, van den Akker JT, et al., Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011; 364: 1513-1522.
248. van Deutekom JC, Janson AA, Ginjaar IB, et al., Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-2686.
249. Gebski BL, Mann CJ, Fletcher S, et al., Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle. Hum Mol Genet 2003; 12: 1801-1811. (Pubitemid 36944135)
250. Alter J, Lou F, Rabinowitz A, et al., Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 2006; 12: 175-177. (Pubitemid 43214742)
251. Wu B, Li Y, Morcos PA, et al., Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice. Mol Ther 2009; 17: 864-871.
252. Wu B, Lu P, Benrashid E, et al., Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino. Gene Ther 2010; 17: 132-140.
253. Wu B, Moulton HM, Iversen PL, et al., Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. Proc Natl Acad Sci USA 2008; 105: 14814-14819.
254. Malerba A, Sharp PS, Graham IR, et al., Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Mol Ther 2011; 19: 345-354.
255. Aoki Y, Nakamura A, Yokota T, et al., In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse. Mol Ther 2010; 18: 1995-2005.
256. Yokota T, Lu QL, Partridge T, et al., Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 2009; 65: 667-676.
257. Goyenvalle A, Babbs A, Powell D, et al., Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther 2010; 18: 198-205.
258. Yin H, Moulton HM, Betts C, et al., Functional rescue of dystrophin-deficient mdx mice by a chimeric peptide-PMO. Mol Ther 2010; 18: 1822-1829.
259. Fletcher S, Adams AM, Johnsen RD, et al., Dystrophin isoform induction in vivo by antisense-mediated alternative splicing. Mol Ther 2010; 18: 1218-1223.
260. Kinali M, Arechavala-Gomeza V, Feng L, et al., Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009; 8: 918-928.
261. Goyenvalle A, Vulin A, Fougerousse F, et al., Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 2004; 306: 1796-1799. (Pubitemid 39601401)
262. Denti MA, Incitti T, Sthandier O, et al., Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice. Hum Gene Ther 2008; 19: 601-608. (Pubitemid 351913531)
263. Acsadi G, Dickson G, Love DR, et al., Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature 1991; 352: 815-818. (Pubitemid 21912438)
264. Romero NB, Braun S, Benveniste O, et al., Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. Hum Gene Ther 2004; 15: 1065-1076. (Pubitemid 39552288)
265. Romero NB, Benveniste O, Payan C, et al., Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part II: clinical protocol. Neuromuscul Disord 2002; 12 (suppl 1): S45-48. (Pubitemid 36158770)
266. Budker V, Zhang G, Danko I, et al., The efficient expression of intravascularly delivered DNA in rat muscle. Gene Ther 1998; 5: 272-276. (Pubitemid 28077756)
267. Hagstrom JE, Hegge J, Zhang G, et al., A facile nonviral method for delivering genes and siRNAs to skeletal muscle of mammalian limbs. Mol Ther 2004; 10: 386-398. (Pubitemid 39117883)
268. Wolff J, Lewis DL, Herweijer H, et al., Non-viral approaches for gene transfer. Acta Myol 2005; 24: 202-208.
269. Zhang G, Wooddell CI, Hegge JO, et al., Functional efficacy of dystrophin expression from plasmids delivered to mdx mice by hydrodynamic limb vein injection. Hum Gene Ther 2010; 21: 221-237.
270. Hegge JO, Wooddell CI, Zhang G, et al., Evaluation of hydrodynamic limb vein injections in nonhuman primates. Hum Gene Ther 2010; 21: 829-842.
271. Peng B, Zhao Y, Lu H, et al., In vivo plasmid DNA electroporation resulted in transfection of satellite cells and lasting transgene expression in regenerated muscle fibers. Biochem Biophys Res Commun 2005; 338: 1490-1498. (Pubitemid 41608417)
272. Vilquin JT, Kennel PF, Paturneau-Jouas M, et al., Electrotransfer of naked DNA in the skeletal muscles of animal models of muscular dystrophies. Gene Ther 2001; 8: 1097-1107. (Pubitemid 32962707)
273. Pichavant C, Chapdelaine P, Cerri DG, et al., Electrotransfer of the full-length dog dystrophin into mouse and dystrophic dog muscles. Hum Gene Ther 2010; 21: 1591-1601.
274. Chapdelaine P, Pichavant C, Rousseau J, et al., Meganucleases can restore the reading frame of a mutated dystrophin. Gene Ther 2010; 17: 846-858.
275. Chaubourt E, Fossier P, Baux G, et al., Nitric oxide and l-arginine cause an accumulation of utrophin at the sarcolemma: a possible compensation for dystrophin loss in Duchenne muscular dystrophy. Neurobiol Dis 1999; 6: 499-507. (Pubitemid 30036619)
276. Miura P, Jasmin BJ,. Utrophin upregulation for treating Duchenne or Becker muscular dystrophy: how close are we? Trends Mol Med 2006; 12: 122-129.
277. Tinsley JM, Fairclough RJ, Storer R, et al., Daily treatment with SMTC1100, a novel small molecule utrophin regulator dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One 2011; 6: e19189.
278. Fakhfakh R, Lamarre Y, Skuk D, et al., Losartan enhances the success of myoblast transplantation. Cell Transpl 2011; (Epub ahead of print).
279. Gerard C, Forest MA, Beauregard G, et al., Fibrin gel improves the survival of transplanted myoblasts. Cell Transpl 2011; (Epub ahead of print).
280. Pellegrini KL, Beilharz MW,. The survival of myoblasts after intramuscular transplantation is improved when fewer cells are injected. Transplantation 2011; 91: 522-526.
281. Fakhfakh R, Michaud A, Tremblay JP,. Blocking the myostatin signal with a dominant negative receptor improves the success of human myoblast transplantation in dystrophic mice. Mol Ther 2011; 19: 204-210.
282. Rousseau J, Dumont N, Lebel C, et al., Dystrophin expression following the transplantation of normal muscle precursor cells protects mdx muscle from contraction-induced damage. Cell Transpl 2010; 19: 589-596.
283. Carnio S, Serena E, Rossi CA, et al., Three-dimensional porous scaffold allows long-term wild-type cell delivery in dystrophic muscle. J Tissue Eng Regen Med 2011; 5: 1-10.
284. Peault B, Rudnicki M, Torrente Y, et al., Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther 2007; 15: 867-877. (Pubitemid 46621645)
285. Montarras D, Morgan J, Collins C, et al., Direct isolation of satellite cells for skeletal muscle regeneration. Science 2005; 309: 2064-2067. (Pubitemid 41362326)
286. Daston G, Lamar E, Olivier M, et al., Pax-3 is necessary for migration but not differentiation of limb muscle precursors in the mouse. Development 1996; 122: 1017-1027. (Pubitemid 26096005)
287. + stem cells from injured muscle. PLoS Biol 2004; 2: E130.
288. + stem cells restores dystrophin in mdx mice. J Cell Biol 2001; 152: 335-348. (Pubitemid 34285603)
289. Qu-Petersen Z, Deasy B, Jankowski R, et al., Identification of a novel population of muscle stem cells in mice: potential for muscle regeneration. J Cell Biol 2002; 157: 851-864. (Pubitemid 34847822)
290. Xiong F, Xu Y, Zheng H, et al., Microdystrophin delivery in dystrophin-deficient (mdx) mice by genetically-corrected syngeneic MSCs transplantation. Transpl Proc 2010; 42: 2731-2739.
291. Li Z, Liu HY, Lei QF, et al., Improved motor function in dko mice by intravenous transplantation of bone marrow-derived mesenchymal stromal cells. Cytotherapy 2011; 13: 69-77.
292. Lennon DP, Caplan AI,. Isolation of human marrow-derived mesenchymal stem cells. Exp Hematol 2006; 34: 1604-1605. (Pubitemid 44548124)
293. Ferrari G, Cusella-De Angelis G, Coletta M, et al., Muscle regeneration by bone marrow-derived myogenic progenitors. Science 1998; 279: 1528-1530. (Pubitemid 28217075)
294. Ferrari G, Stornaiuolo A, Mavilio F,. Failure to correct murine muscular dystrophy. Nature 2001; 411: 1014-1015. (Pubitemid 32612316)
295. Gussoni E, Pavlath GK, Lanctot AM, et al., Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature 1992; 356: 435-438.
296. Jackson KA, Mi T, Goodell MA,. Hematopoietic potential of stem cells isolated from murine skeletal muscle. Proc Natl Acad Sci USA 1999; 96: 14482-14486. (Pubitemid 30000676)
297. + stem cells after intra-arterial transplantation. Blood 2006; 108: 2857-2866.
298. Gussoni E, Soneoka Y, Strickland CD, et al., Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature 1999; 401: 390-394. (Pubitemid 29454964)
299. Asakura A, Rudnicki MA,. Side population cells from diverse adult tissues are capable of in vitro hematopoietic differentiation. Exp Hematol 2002; 30: 1339-1345. (Pubitemid 35287588)
300. Dellavalle A, Sampaolesi M, Tonlorenzi R, et al., Pericytes of human skeletal muscle are myogenic precursors distinct from satellite cells. Nat Cell Biol 2007; 9: 255-267. (Pubitemid 46349927)
301. Morgan J, Muntoni F,. Mural cells paint a new picture of muscle stem cells. Nat Cell Biol 2007; 9: 249-251. (Pubitemid 46344603)
302. Cossu G, Sampaolesi M,. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med 2007; 13: 520-526. (Pubitemid 350130348)
303. Davies KE, Grounds MD,. Treating muscular dystrophy with stem cells? Cell 2006; 127: 1304-1306. (Pubitemid 44960420)
304. Kawamichi Y, Cui CH, Toyoda M, et al., Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy. J Cell Physiol 2010; 223: 695-702.
305. Kazuki Y, Hiratsuka M, Takiguchi M, et al., Complete genetic correction of ips cells from Duchenne muscular dystrophy. Mol Ther 2010; 18: 386-393.
306. Bogdanovich S, Krag TO, Barton ER, et al., Functional improvement of dystrophic muscle by myostatin blockade. Nature 2002; 420: 418-421. (Pubitemid 35415652)
307. Wagner KR, Fleckenstein JL, Amato AA, et al., A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol 2008; 63: 561-571.
308. Kang JK, Malerba A, Popplewell L, et al., Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. Mol Ther 2011; 19: 159-164.
309. Minetti GC, Colussi C, Adami R, et al., Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors. Nat Med 2006; 12: 1147-1150. (Pubitemid 44527349)
310. Lee SJ, McPherron AC,. Regulation of myostatin activity and muscle growth. Proc Natl Acad Sci USA 2001; 98: 9306-9311. (Pubitemid 32743912)
311. Lee SJ, Reed LA, Davies MV, et al., Regulation of muscle growth by multiple ligands signaling through activin type II receptors. Proc Natl Acad Sci USA 2005; 102: 18117-18122. (Pubitemid 41798511)
312. Morine KJ, Bish LT, Selsby JT, et al., Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. Muscle Nerve 2010; 42: 722-730.
313. Bottinger EP, Factor VM, Tsang ML, et al., The recombinant proregion of transforming growth factor β1 (latency-associated peptide) inhibits active transforming growth factor β1 in transgenic mice. Proc Natl Acad Sci USA 1996; 93: 5877-5882.
314. Qiao C, Li J, Zheng H, et al., Hydrodynamic limb vein injection of adeno-associated virus serotype 8 vector carrying canine myostatin propeptide gene into normal dogs enhances muscle growth. Hum Gene Ther 2009; 20: 1-10.
315. Qiao C, Li J, Jiang J, et al., Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice. Hum Gene Ther 2008; 19: 241-254.
316. Rooney JE, Gurpur PB, Burkin DJ,. Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Proc Natl Acad Sci USA 2009; 106: 7991-7996.
317. Gawlik KI, Oliveira BM, Durbeej M,. Transgenic expression of laminin α1 chain does not prevent muscle disease in the mdx mouse model for duchenne muscular dystrophy. Am J Pathol 2011; 178: 1728-1737.
318. Goudenege S, Lamarre Y, Dumont N, et al., Laminin-111: a potential therapeutic agent for Duchenne muscular dystrophy. Mol Ther 2010; 18: 2155-2163.
319. Gurpur PB, Liu J, Burkin DJ, et al., Valproic acid activates the PI3K/Akt/mTOR pathway in muscle and ameliorates pathology in a mouse model of Duchenne muscular dystrophy. Am J Pathol 2009; 174: 999-1008.
320. Bonuccelli G, Sotgia F, Schubert W, et al., Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins. Am J Pathol 2003; 163: 1663-1675. (Pubitemid 37175113)
321. Bonuccelli G, Sotgia F, Capozza F, et al., Localized treatment with a novel FDA-approved proteasome inhibitor blocks the degradation of dystrophin and dystrophin-associated proteins in mdx mice. Cell Cycle 2007; 6: 1242-1248. (Pubitemid 47327991)
322. Assereto S, Stringara S, Sotgia F, et al., Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment. Am J Physiol Cell Physiol 2006; 290: C577-582.
323. 2+-dependent proteolysis and muscle histopathology in the mdx mouse. FASEB J 2008; 22: 4190-4200.
324. Brunelli S, Sciorati C, D'Antona G, et al., Nitric oxide release combined with nonsteroidal antiinflammatory activity prevents muscular dystrophy pathology and enhances stem cell therapy. Proc Natl Acad Sci USA 2007; 104: 264-269. (Pubitemid 46068020)
325. Gervasio OL, Whitehead NP, Yeung EW, et al., TRPC1 binds to caveolin-3 and is regulated by Src kinase-role in Duchenne muscular dystrophy. J Cell Sci 2008; 121: 2246-2255.
326. Schertzer JD, Ryall JG, Lynch GS,. Systemic administration of IGF-I enhances oxidative status and reduces contraction-induced injury in skeletal muscles of mdx dystrophic mice. Am J Physiol Endocrinol Metab 2006; 291: E499-505. (Pubitemid 44352255)
327. Hnia K, Gayraud J, Hugon G, et al., L -Arginine decreases inflammation and modulates the nuclear factor-κB/matrix metalloproteinase cascade in mdx muscle fibers. Am J Pathol 2008; 172: 1509-1519. (Pubitemid 351793345)
328. Spurney CF, Sali A, Guerron AD, et al., Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. J Cardiovasc Pharmacol Ther 2011; 16: 87-95.
329. Cohn RD, van Erp C, Habashi JP, et al., Angiotensin II type 1 receptor blockade attenuates TGFβ-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007; 13: 204-210.
330. Kumar A, Bhatnagar S,. Matrix metalloproteinase inhibitor batimastat alleviates pathology and improves skeletal muscle function in dystrophin-deficient mdx mice. Am J Pathol 2010; 177: 248-260.
331. Machado RV, Mauricio AF, Taniguti AP, et al., Eicosapentaenoic acid decreases TNFα and protects dystrophic muscles of mdx mice from degeneration. J Neuroimmunol 2011; 232: 145-150.
332. Messina S, Bitto A, Aguennouz M, et al., Nuclear factor-κB blockade reduces skeletal muscle degeneration and enhances muscle function in mdx mice. Exp Neurol 2006; 198: 234-241. (Pubitemid 43243761)
333. Fougerousse F, Bartoli M, Poupiot J, et al., Phenotypic correction of α-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther 2007; 15: 53-61. (Pubitemid 46043649)
334. Rodino-Klapac LR, Lee JS, Mulligan RC, et al., Lack of toxicity of α-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology 2008; 71: 240-247.
335. Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, et al., Limb-girdle muscular dystrophy type 2D gene therapy restores α-sarcoglycan and associated proteins. Ann Neurol 2009; 66: 290-297.
336. Mendell JR, Rodino-Klapac LR, Rosales XQ, et al., Sustained α-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010; 68: 629-638.
337. Allamand V, Donahue KM, Straub V, et al., Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in α-sarcoglycan- deficient mice. Gene Ther 2000; 7: 1385-1391. (Pubitemid 30662244)
338. Pacak CA, Walter GA, Gaidosh G, et al., Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D. Mol Ther 2007; 15: 1775-1781. (Pubitemid 47434183)
339. Dressman D, Araishi K, Imamura M, et al., Delivery of α- and β-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Hum Gene Ther 2002; 13: 1631-1646. (Pubitemid 35034683)
340. Xu R, DeVries S, Camboni M, et al., Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of α-sarcoglycan-deficient mice. Am J Pathol 2009; 175: 235-247.
341. Imamura M, Mochizuki Y, Engvall E, et al., ε-Sarcoglycan compensates for lack of α-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. Hum Mol Genet 2005; 14: 775-783. (Pubitemid 40403274)
342. Sciorati C, Miglietta D, Buono R, et al., A dual acting compound releasing nitric oxide (NO) and ibuprofen, NCX 320, shows significant therapeutic effects in a mouse model of muscular dystrophy. Pharmacol Res 2011; 64: 210-217.
343. Sciorati C, Buono R, Azzoni E, et al., Co-administration of ibuprofen and nitric oxide is an effective experimental therapy for muscular dystrophy, with immediate applicability to humans. Br J Pharmacol 2010; 160: 1550-1560.
344. Sampaolesi M, Torrente Y, Innocenzi A, et al., Cell therapy of α-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science 2003; 301: 487-492. (Pubitemid 36900300)
345. Gastaldello S, D'Angelo S, Franzoso S, et al., Inhibition of proteasome activity promotes the correct localization of disease-causing α-sarcoglycan mutants in HEK-293 cells constitutively expressing β-, γ-, and δ-sarcoglycan. Am J Pathol 2008; 173: 170-181. (Pubitemid 351947965)
346. Bartoli M, Poupiot J, Vulin A, et al., AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not α-sarcoglycan deficiency. Gene Ther 2007; 14: 733-740. (Pubitemid 46585654)
347. Durbeej M, Sawatzki SM, Barresi R, et al., Gene transfer establishes primacy of striated vs smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. Proc Natl Acad Sci USA 2003; 100: 8910-8915. (Pubitemid 36899197)
348. Cordier L, Hack AA, Scott MO, et al., Rescue of skeletal muscles of γ-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer. Mol Ther 2000; 1: 119-129.
349. Holt KH, Lim LE, Straub V, et al., Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using δ-sarcoglycan gene transfer. Mol Cell 1998; 1: 841-848. (Pubitemid 128379068)
350. Li J, Dressman D, Tsao YP, et al., rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Gene Ther 1999; 6: 74-82. (Pubitemid 29043696)
351. Vitiello C, Faraso S, Sorrentino NC, et al., Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments. PLoS One 2009; 4: e5051.
352. Xiao X, Li J, Tsao YP, et al., Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy. J Virol 2000; 74: 1436-1442. (Pubitemid 30044093)
353. Goonasekera SA, Lam CK, Millay DP, et al., Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle. J Clin Invest 2011; 121: 1044-1052.
354. Shabbir A, Zisa D, Leiker M, et al., Muscular dystrophy therapy by nonautologous mesenchymal stem cells: muscle regeneration without immunosuppression and inflammation. Transplantation 2009; 87: 1275-1282.
355. Fiaccavento R, Carotenuto F, Vecchini A, et al., An ω3 fatty acid-enriched diet prevents skeletal muscle lesions in a hamster model of dystrophy. Am J Pathol 2010; 177: 2176-2184.