Dysferlin and animal models for dysferlinopathy

Journal of Toxicologic Pathology

Volumn 25, Issue 2, 2012, Pages 135-147

  Kobayashi, Kinji ^a,b   Izawa, Takeshi ^a   Kuwamura, Mitsuru ^a   Yamate, Jyoji ^a  

^a Osaka Prefecture University   (Japan)

^b SHIN NIPPON BIOMEDICAL LABORATORIES LTD   (Japan)

Author keywords

A J mouse; Complement; Dysferlin; Dysferlinopathy; SJL J mouse

Indexed keywords

ADENOSINE TRIPHOSPHATE; ANTISENSE OLIGONUCLEOTIDE; ATALUREN; CALCIUM BINDING PROTEIN; CALCIUM ION; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C5; COMPLEMENT FACTOR; COMPLEMENTARY DNA; DECAY ACCELERATING FACTOR; DRISAPERSEN; DYSFERLIN; ETEPLIRSEN; GSK 20402968; HEAT SHOCK PROTEIN; HIGH MOBILITY GROUP B1 PROTEIN; PLASMID VECTOR; STAMULUMAB; TUMOR NECROSIS FACTOR ANTIBODY; UNCLASSIFIED DRUG; UNCOUPLING PROTEIN 2; VIRUS VECTOR;

A J MOUSE; AUTOIMMUNE DISEASE; BECKER MUSCULAR DYSTROPHY; CALCIUM CELL LEVEL; CALCIUM SIGNALING; CELL INFILTRATION; CELL VACUOLE; DISEASE MODEL; DUCHENNE MUSCULAR DYSTROPHY; DYSFERLIN GENE; DYSFERLINOPATHY; ENDOPLASMIC RETICULUM STRESS; EXON SKIPPING; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE; GENE EXPRESSION PROFILING; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPID METABOLISM; MIYOSHI MYOPATHY; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONHUMAN; OXIDATIVE STRESS; PHAGOCYTOSIS; REVIEW; SARCOPLASMIC RETICULUM; STEM CELL TRANSPLANTATION; SWISS JAMES LAMBERT MOUSE; TRANSVERSE TUBULAR SYSTEM; VIRAL GENE THERAPY;

EID: 84863821215     PISSN: 09149198     EISSN: None     Source Type: Journal    
DOI: 10.1293/tox.25.135     Document Type: Review

References (91)

1. Cohn RD, and Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 23: 1456-1471. 2000. [Medline] [CrossRef]
2. Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain. 122: 1403-1420. 1999. [Medline] [CrossRef]
3. Han R, Bansal D, Miyake K, Muniz VP, Weiss RM, McNeil PL, and Campbell KP. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest. 117: 1805-1813. 2007. [Medline] [CrossRef]
4. Glover L, and Brown RH Jr. Dysferlin in membrane trafficking and patch repair. Traffic. 8: 785-794. 2007. [Medline] [CrossRef]
5. Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. Morb Mortal Wkly Rep. 58: 1119-1122. 2009.
6. Sunada Y. Limb-girdle muscular dystrophy: Update. Rinsho Shinkeigaku. 44: 995-997. 2004. [Article in Japanese] [Medline]
7. Hayashi S, Ohsawa Y, Takahashi T, Suzuki N, Okada T, Rikimaru M, Murakami T, Aoki M, and Sunada Y. Rapid screening for Japanese dysferlinopathy by fluorescent primer extension. Intern Med. 49: 2693-2696. 2010. [Medline] [CrossRef]
8. Park KS, and Oh D. Gene therapy for muscular dystrophy: Progress and challenges. J Clin Neurol. 6: 111-116. 2010. [Medline] [CrossRef]
9. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, and Muntoni F. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, Phase 2, dose-escalation study. Lancet. 378: 595-605. 2011. [Medline] [CrossRef]
10. Hammond SM, and Wood MJ. PRO-051, an antisense oligonucleotide for the potential treatment of Duchenne muscular dystrophy. Curr Opin Mol Ther. 12: 478-486. 2010. [Medline]
11. Quattrocelli M, Cassano M, Crippa S, Perini I, and Sampaolesi M. Cell therapy strategies and improvements for muscular dystrophy. Cell Death Differ. 17: 1222-1229. 2010. [Medline] [CrossRef]
12. Arakawa M, Shiozuka M, Nakayama Y, Hara T, Hamada M, Kondo S, Ikeda D, Takahashi Y, Sawa R, Nonomura Y, Sheykholeslami K, Kondo K, Kaga K, Kitamura T, Suzuki-Miyagoe Y, Takeda S, and Matsuda R. Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J Biochem. 134: 751-758. 2003. [Medline] [CrossRef]
13. De Luca A, Nico B, Rolland JF, Cozzoli A, Burdi R, Mangieri D, Giannuzzi V, Liantonio A, Cippone V, De Bellis M, Nicchia GP, Camerino GM, Frigeri A, Svelto M, and Camerino DC. Gentamicin treatment in exercised mdx mice: Identification of dystrophin-sensitive pathways and evaluation of efficacy in work-loaded dystrophic muscle. Neurobiol Dis. 32: 243-253. 2008. [Medline] [CrossRef]
14. Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben-Yosef T, and Baasov T. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem. 52: 2836-2845. 2009. [Medline] [CrossRef]
15. Finkel RS. Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: Aminoglycosides and ataluren (PTC124). J Child Neurol. 25: 1158-1164. 2010. [Medline] [CrossRef]
16. Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, and Matsuo M. Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun. 2: 308. 2011. [Medline] [CrossRef]
17. Bogdanovich S, Krag TO, Barton ER, Morris LD, Whittemore LA, Ahima RS, and Khurana TS. Functional im- provement of dystrophic muscle by myostatin blockade. Nature. 420: 418-421. 2002. [Medline] [CrossRef]
18. Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Hoger H, Jung M, Karbasiyan M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KM, and Reis A. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet. 23: 141-142. 1999. [Medline] [CrossRef]
19. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, and Campbell KP. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 423: 168-172. 2003. [Medline] [CrossRef]
20. McNeil PL, Miyake K, and Vogel SS. The endomembrane requirement for cell surface repair. Proc Natl Acad Sci USA. 100: 4592-4597. 2003. [Medline] [CrossRef]
21. Bi GQ, Alderton JM, and Steinhardt RA. Calcium-regulated exocytosis is required for cell membrane resealing. J Cell Biol. 131: 1747-1758. 1995. [Medline] [CrossRef]
22. Miyake K, and McNeil PL. Vesicle accumulation and exocytosis at sites of plasma membrane disruption. J Cell Biol. 131: 1737-1745. 1995 [Medline] [CrossRef]
23. 2+ regulated exocytosis. J Cell Biol. 138: 999-1008. 1997. [Medline] [CrossRef]
24. Togo T, and Steinhardt RA. Nonmuscle myosin IIA and IIB have distinct functions in the exocytosis-dependent process of cell membrane repair. Mol Biol Cell. 15: 688-695. 2004. [Medline] [CrossRef]
25. Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, and Nigro V. Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem. 286: 5404-5413. 2011.[Medline] [CrossRef]
26. Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, and Brown RH Jr. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem. 278: 50466-50473. 2003. [Medline] [CrossRef]
27. Weisleder N, Takeshima H, and Ma J. Mitsugumin 53 (MG53) facilitates vesicle trafficking in striated muscle to contribute to cell membrane repair. Commun Integr Biol. 2: 225-226. 2009. [Medline] [CrossRef]
28. Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, and Ma J. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3 and dysferlin. J Biol Chem. 284: 15894-15902. 2009. [Medline] [CrossRef]
29. Cai C, Masumiya H, Weisleder N, Pan Z, Nishi M, Komazaki S, Takeshima H, and Ma J. MG53 regulates membrane budding and exocytosis in muscle cells. J Biol Chem. 284: 3314-3322. 2009. [Medline] [CrossRef]
30. Cai C, Masumiya H, Weisleder N, Matsuda N, Nishi M, Hwang M, Ko JK, Lin P, Thornton A, Zhao X, Pan Z, Komazaki S, Brotto M, Takeshima H, and Ma J. MG53 nucleates assembly of cell membrane repair machinery. Nat Cell Biol. 11: 56-64. 2009. [Medline] [CrossRef]
31. Wang X, Xie W, Zhang Y, Lin P, Han L, Han P, Wang Y, Chen Z, Ji G, Zheng M, Weisleder N, Ziao RP, Takeshima H, Ma J, and Cheng H. Cardioprotection of ischemia/reperfusion injury by cholesterol-dependent MG53-mediated membrane repair. Circ Res. 107: 76-83. 2010. [Medline] [CrossRef]
32. Cao CM, Zhang Y, Weisleder N, Ferrante C, Wang X, Lv F, Song R, Hwang M, Jin L, Guo J, Peng W, Li G, Nishi M, Takeshima H, Ma J, and Xiao RP. MG53 constitutes a primary determinant of cardiac ischemic preconditioning. Circulation. 121: 2565-2574, 2010. [Medline] [CrossRef]
33. Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT, Bushby K, and van der Maarel SM. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 21: 732-742. 2007. [Medline] [CrossRef]
34. Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, and Hayashi YK. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol. 64: 334-340. 2005. [Medline]
35. Rezvanpour A, and Shaw GS. Unique S100 target protein interactions. Gen Physiol Biophys. 28 Spec No Focus: F39- F46. 2009. [Medline]
36. Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, and van der Maarel SM. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet. 17: 1855-1866. 2008. [Medline] [CrossRef]
37. Azakir BA, Di Fulvio S, Therrien C, and Sinnreich M. Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. PLoS One. 5: e10122. 2010. [Medline] [CrossRef]
38. Ampong BN, Imamura M, Matsumiya T, Yoshida M, and Takeda S. Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol. 24: 134-144. 2005. [Medline]
39. Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, and Bushby K. From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis. FASEB J. 21: 1768-1776. 2007. [Medline] [CrossRef]
40. Klinge L, Hams J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Homsey M, Straub V, Barresi R, Lochmüller H, and Bushby K. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve. 41: 166-173. 2010. [Medline] [CrossRef]
41. Covian-Nares JF, Koushik SV, Puhl HL 3rd, and Vogel SS. Membrane wounding triggers ATP release and dysferlinmediated intercellular calcium signaling. J Cell Sci. 123: 1884-1893. 2010. [Medline] [CrossRef]
42. Rawat R, Cohen TV, Ampong B, Francia D, Henriques-Pons A, Hoffman EP, and Nagaraju K. Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. Am J Pathol. 176: 2891-2900. 2010. [Medline] [CrossRef]
43. + exchange activity contributes to the pathogenesis of muscular dystrophy via involvement of P2 receptors. Am J Pathol. 171: 1576-1587. 2007. [Medline] [CrossRef]
44. Nagaraju K, Rawat R, Veszalovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, and Hoffman EP. Dysferlin deficiency enhances monocyte phagocytosis: A model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol. 172: 774-785. 2008. [Medline] [CrossRef]
45. Han R, Frett EM, Levy JR, Rader EP, Lueck JD, Bansal D, Moore SA, Ng R, Beltrán-Valero de Bernabe D, Faulkner JA, and Campbell KP. Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest. 120: 4366-4374. 2010. [Medline] [CrossRef]
46. Millay DP, Maillet M, Roche JA, Sargent MA, McNally EM, Bloch RJ, and Molkentin JD. Genetic manipulation of dysferlin expression in skeletal muscle: Novel insights into muscular dystrophy. Am J Pathol. 175: 1817-1823. 2009. [Medline] [CrossRef]
47. Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, and Brown RH Jr. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet. 13: 1999-2010. 2004. [Medline] [CrossRef]
48. Kobayashi K, Izawa T, Kuwamura M, and Yamate J. The distribution and characterization of skeletal muscle lesions in dysferlin-deficient SJL and A/J mice. Exp Toxicol Pathol. 62: 509-517. 2010. [Medline] [CrossRef]
49. Kostek CA, Dominov JA, and Miller JB. Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. Am J Pathol. 160: 833-839. 2002. [Medline] [CrossRef]
50. Fanin M, and Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol. 28: 461-470. 2002. [Medline] [CrossRef]
51. Dixon JE, Allan JE, Doherty PC, and Hume DA. Immunohistochemical analysis of the involvement of F4/80 and Iapositive macrophages in mouse liver infected with lymphocytic choriomeningitis virus. J Leukoc Biol. 40: 617-628. 1986. [Medline]
52. Sunderkötter C, Kunz M, Steinbrink K, Meinardus-Hager G, Goebeler M, Bildau H, and Sorg C. Resistance of mice to experimental leishmaniasis is associated with more rapid appearance of mature macrophages in vitro and in vivo. J Immunol. 151: 4891-4901. 1993. [Medline]
53. Fujita E, Kouroku Y, Isoai A, Kumagai H, Misutani A, Matsuda C, Hayashi YK, and Momoi T. Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: Ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). Hum Mol Genet. 16: 618-629. 2007. [Medline] [CrossRef]
54. Ikezoe K, Furuya H, Ohyagi Y, Osoegawa M, Nishino I, Nonaka I, and Kira J. Dysferlin expression in tubular aggregates: Their possible relationship to endoplasmic reticulum stress. Acta Neuropathol. 105: 603-609. 2003. [Medline]
55. Ikezoe K, Nakamori M, Furuya H, Arahata H, Kanemoto S, Kimura T, Imaizumi K, Takahashi MP, Sakoda S, Fujii N, and Kira J. Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. Acta Neuropathol. 114: 527-535. 2007. [Medline] [CrossRef]
56. Vattemi G, Engel WK, McFerrin J, and Askanas V. Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle. Am J Pathol. 164: 1-7. 2004. [Medline] [CrossRef]
57. Kobayashi K, Izawa T, Kuwamura M, and Yamate J. Comparative gene expression analysis in the skeletal muscles of dysferlin-deficient SJL/J and A/J mice. J Toxicol Pathol. 24: 49-62. 2011. [Medline] [CrossRef]
58. Langin D. The role of uncoupling protein 2 in the development of type 2 diabetes. Drugs Today (Barc). 39: 287-295. 2003. [Medline] [CrossRef]
59. Bodyak N, Rigor DL, Chen YS, Han Y, Bisping E, Pu WT, and Kang PM. Uncoupling protein 2 modulates cell viability in adult rat cardiomyocytes. Am J Physiol Heart Circ Physiol. 293: H829-H835. 2007. [Medline] [CrossRef]
60. Roach WG, Chavez JA, Mîinea CP, and Lienhard GE. Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1. Biochem J. 403: 353-358. 2007. [Medline] [CrossRef]
61. Chadt A, Leicht K, Deshmukh A, Jiang LQ, Scherneck S, Bernhardt U, Dreja T, Vogel H, Schmolz K, Kluge R, Zierath JR, Hultschig C, Hoeben RC, Schürmann A, Joost HG, and Al-Hasani H. Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity. Nat Genet. 40: 1354-1359. 2008. [Medline] [CrossRef]
62. Islam T, McConnell R, Gauderman WJ, Avol E, Peters JM, and Gilliland FD. Ozone, oxidant defense genes, and risk of asthma during adolescence. Am J Respir Crit Care Med. 177: 388-395. 2008. [Medline] [CrossRef]
63. Jorquera G, Juretiæ N, Jaimovich E, and Riveros N. Membrane depolarization induces calcium-dependent upregulation of Hsp70 and Hmox-1 in skeletal muscle cells. Am J Physiol Cell Physiol. 297: C581-C590. 2009. [Medline] [CrossRef]
64. Silomon M, Bauer I, Bauer M, Nolting J, Paxian M, and Rensing H. Induction of heme oxygenase-1 and heat shock protein 70 in rat hepatocytes: The role of calcium signaling. Cell Mol Biol Lett. 12: 25-38. 2007. [Medline] [CrossRef]
65. O'Neill DE, and Noble EG. Constitutive expression of inducible Hsp70 is linked to natural shifts in skeletal muscle phenotype. Acta Physiol Scand. 181: 35-41. 2004. [Medline] [CrossRef]
66. Krajacic P, Hermanowski J, Lozynska O, Khurana TS, and Lamitina T. The C. elegans dysferlin homolog fer-1 is expressed in muscle and fer-1 mutations initiate altered gene expression of muscle enriched genes. Physiol Genomics. 40: 8-14. 2009. [Medline] [CrossRef]
67. Li ZH, Dulyaninova NG, House RP, Almo SC, and Bresnick AR. S100A4 regulates macrophage chemotaxis. Mol Biol Cell. 21: 2598-2610. 2010. [Medline] [CrossRef]
68. Wenzel K, Zabojszcza J, Carl M, Taubert S, Lass A, Harris CL, Ho M, Schulz H, Hummel O, Hubner N, Osterziel KJ, and Spuler S. Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J Immunol. 175: 6219-6225. 2005. [Medline]
69. Lynch DM, and Kay PH. Studies on the polymorphism of the fifth component of complement in laboratory mice. Exp Clin Immunogenet. 12: 253-260. 1995. [Medline]
70. Rhodes JC, Wicker LS, and Urba WJ. Genetic control of susceptibility to Cryptococcus neoformans in mice. Infect Immun. 29: 494-499. 1980. [Medline]
71. von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M, Oberndorfer F, Anderson LV, Straub V, Bittner RE, and Bushby KM. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord. 15: 863-877. 2005. [Medline] [CrossRef]
72. Suzuki N, Aoki M, Hinuma Y, Takahashi T, Onodera Y, Ishigaki A, Kato M, Warita H, Tateyama M, and Itoyama Y. Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL). Neurosci Res. 52: 47-60. 2005. [Medline] [CrossRef]
73. Bernard CC, and Carnegie PR. Experimental autoimmune encephalomyelitis in mice: Immunologic response to mouse spinal cord and myelin basic proteins. J Immunol. 114: 1537-1540. 1975. [Medline]
74. Rosenberg NL, Ringel SP, and Kotzin BL. Experimental autoimmune myositis in SJL/J mice. Clin Exp Immunol. 68: 117-129. 1987. [Medline]
75. Tzou SC, Lupi I, Landek M, Gutenberg A, Tzou YM, Kimura H, Pinna G, Rose NR, and Caturegli P. Autoimmune hypophysitis of SJL mice: Clinical insights from a new animal model. Endocrinology. 149: 3461-3469. 2008. [Medline] [CrossRef]
76. Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, and Hoffman EP. Dysferlin deficiency enhances monocyte phagocytosis: A model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol. 172: 774-785. 2008. [Medline] [CrossRef]
77. Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, and Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 18: 1976-1989. 2009. [Medline] [CrossRef]
78. Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, and Eymard B. Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes. Arch Neurol. 64: 1176-1182. 2007. [Medline] [CrossRef]
79. Grieger JC, and Samulski RJ. Packaging capacity of adenoassociated virus serotypes: Impact of larger genomes on infectivity and postentry steps. J Virol. 79: 9933-9944. 2005. [Medline] [CrossRef]
80. Yuasa K, Sakamoto M, Miyagoe-Suzuki Y, Tanouchi A, Yamamoto H, Li J, Chamberlain JS, Xiao X, and Takeda S. Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product. Gene Ther. 9: 1576-1588. 2002. [Medline] [CrossRef]
81. Mingozzi F, and High KA. Immune responses to AAV clinical trials. Curr Gene Ther. 7: 316-324. 2007. [Medline] [CrossRef]
82. Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, and Richard I. Efficient recovery of dysferlin deficiency by dual adenoassociated vector-mediated gene transfer. Hum Mol Genet. 19: 1897-1907. 2010. [Medline] [CrossRef]
83. Sancricca C, Mirabella M, Gliubizzi C, Broccolini A, Gidaro T, and Morosetti R. Vessel-associated stem cells from skeletal muscle: From biology to future uses in cell therapy. World J Stem Cells. 2: 39-49. 2010. [Medline] [CrossRef]
84. Leriche-Guérin K, Anderson LV, Wrogemann K, Roy B, Goulet M, and Tremblay JP. Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice. Neuromuscul Disord. 12: 167-173. 2002. [Medline] [Cross- Ref]
85. Kong KY, Ren J, Kraus M, Finklestein SP, and Brown RH Jr. Human umbilical cord blood cells differentiate into muscle in SJL muscular dystrophy mice. Stem Cells. 22: 981-993. 2004. [Medline] [CrossRef]
86. Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, and Mendell JR. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 63: 561-571. 2008. [Medline] [CrossRef]
87. Nemoto H, Konno S, Sugimoto H, Nakazora H, Nomoto N, Murata M, Kitazono H, and Fujioka T. Anti-TNF therapy using etanercept suppresses degenerative and inflammatory changes in skeletal muscle of older SJL/J mice. Exp Mol Pathol. 90: 264-270. 2011. [Medline] [CrossRef]
88. Han R. Muscle membrane repair and inflammatory attack in dysferlinopathy. Skelet Muscle. 1: 10. 2011. [Medline] [CrossRef]
89. Confalonieri P, Oliva L, Andreetta F, Lorenzoni R, Dassi P, Mariani E, Morandi L, Mora M, Comelio F, and Mantegazza R. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: An immunopathological study. J Neuroimmunol. 142: 130-136. 2003. [Medline] [CrossRef]
90. Prohászka Z, Singh M, Nagy K, Kiss E, Lakos G, Duba J, and Füst G. Heat shock protein 70 is a potent activator of the human complement system. Cell Stress Chaperones. 7: 17-22. 2002. [Medline] [CrossRef]
91. Grundtman C, Bruton J, Yamada T, Östberg T, Pisetsky DS, Harris HE, Andersson U, Lundberg IE, and Weserblad H. Effects of HMGB1 on in vitro responses of isolated muscle fibers and functional aspects in skeletal muscles of idiopathic inflammatory myopathies. FASB J. 24: 743-757. 2010.