dysferlin

Summary

Gene Symbol: dysferlin
Description: dysferlin
Alias: 2310004N10Rik, AI604795, D6Pas3, dysferlin, dysferlin variant a, dysferlin_a, dystrophy-associated fer-1-like protein, fer-1-like protein 1
Species: mouse
Products:     dysferlin

Top Publications

  1. Bansal D, Miyake K, Vogel S, Groh S, Chen C, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423:168-72 pubmed
    ..Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi ..
  2. Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V. Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem. 2011;286:5404-13 pubmed publisher
    b>Dysferlin (DYSF) is a type II transmembrane protein implicated in surface membrane repair of muscle...
  3. Hino M, Hamada N, Tajika Y, Funayama T, Morimura Y, Sakashita T, et al. Insufficient membrane fusion in dysferlin-deficient muscle fibers after heavy-ion irradiation. Cell Struct Funct. 2009;34:11-5 pubmed
    ..been used as an animal model in studies of dysferlinopathy, a spectrum of muscle diseases caused by defects in dysferlin protein...
  4. Roche J, Ru L, O Neill A, Resneck W, Lovering R, Bloch R. Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods. J Histochem Cytochem. 2011;59:964-75 pubmed publisher
    Mutations in the DYSF gene that severely reduce the levels of the protein dysferlin are implicated in muscle-wasting syndromes known as dysferlinopathies...
  5. Bittner R, Anderson L, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, et al. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet. 1999;23:141-2 pubmed
  6. Xu L, Pallikkuth S, Hou Z, Mignery G, Robia S, Han R. Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells. PLoS ONE. 2011;6:e27884 pubmed publisher
    b>Dysferlin was previously identified as a key player in muscle membrane repair and its deficiency leads to the development of muscular dystrophy and cardiomyopathy...
  7. Demonbreun A, Fahrenbach J, Deveaux K, Earley J, Pytel P, McNally E. Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. Hum Mol Genet. 2011;20:779-89 pubmed publisher
    Loss-of-function mutations in dysferlin cause muscular dystrophy, and dysferlin has been implicated in resealing membrane disruption in myofibers...
  8. Chiu Y, Hornsey M, Klinge L, Jørgensen L, Laval S, Charlton R, et al. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 2009;18:1976-89 pubmed publisher
    ..b>Dysferlin is a component of that system and absence of dysferlin causes muscular dystrophy (dysferlinopathy) characterized ..
  9. Shaw C, Larochelle N, Dudley R, Lochmuller H, Danialou G, Petrof B, et al. Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. Am J Pathol. 2006;169:2148-60 pubmed
    ..characterized by increased levels of caveolin-3 and beta-dystroglycan and decreased levels of dystrophin, dysferlin, and neuronal nitric-oxide synthase...

More Information

Publications77

  1. McDade J, Michele D. Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin. Hum Mol Genet. 2014;23:1677-86 pubmed publisher
    Mutations in the dysferlin gene resulting in dysferlin-deficiency lead to limb-girdle muscular dystrophy 2B and Myoshi myopathy in humans...
  2. Azakir B, Di Fulvio S, Therrien C, Sinnreich M. Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. PLoS ONE. 2010;5:e10122 pubmed publisher
    b>Dysferlin is a type II transmembrane protein implicated in surface membrane repair in muscle. Mutations in dysferlin lead to limb girdle muscular dystrophy 2B, Miyoshi Myopathy and distal anterior compartment myopathy...
  3. Chase T, Cox G, Burzenski L, Foreman O, Shultz L. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B. Am J Pathol. 2009;175:2299-308 pubmed publisher
    ..myopathy of anterior tibialis are severely debilitating muscular dystrophies caused by genetically determined dysferlin deficiency...
  4. Hernandez Deviez D, Howes M, Laval S, Bushby K, Hancock J, Parton R. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem. 2008;283:6476-88 pubmed
    b>Dysferlin and Caveolin-3 are plasma membrane proteins associated with muscular dystrophy. Patients with mutations in the CAV3 gene show dysferlin mislocalization in muscle cells...
  5. Kerr J, Ziman A, Mueller A, Muriel J, Kleinhans Welte E, Gumerson J, et al. Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane. Proc Natl Acad Sci U S A. 2013;110:20831-6 pubmed publisher
    ..2B and Miyoshi myopathy, are degenerative myopathies caused by mutations in the DYSF gene encoding the protein dysferlin. Studies of dysferlin have focused on its role in the repair of the sarcolemma of skeletal muscle, but dysferlin'..
  6. Ho M, Post C, Donahue L, Lidov H, Bronson R, Goolsby H, et al. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet. 2004;13:1999-2010 pubmed
    ..type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from defects in the dysferlin gene...
  7. Lennon N, Kho A, Bacskai B, Perlmutter S, Hyman B, Brown R. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem. 2003;278:50466-73 pubmed
    Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy...
  8. Hernandez Deviez D, Martin S, Laval S, Lo H, Cooper S, North K, et al. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet. 2006;15:129-42 pubmed
    Mutations in the dysferlin (DYSF) and caveolin-3 (CAV3) genes are associated with muscle disease. Dysferlin is mislocalized, by an unknown mechanism, in muscle from patients with mutations in caveolin-3 (Cav-3)...
  9. Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, et al. Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol. 2008;172:774-85 pubmed publisher
    b>Dysferlin deficiency causes limb-girdle muscular dystrophy type 2B (LGMD2B; proximal weakness) and Miyoshi myopathy (distal weakness)...
  10. Roche J, Lovering R, Roche R, Ru L, Reed P, Bloch R. Extensive mononuclear infiltration and myogenesis characterize recovery of dysferlin-null skeletal muscle from contraction-induced injuries. Am J Physiol Cell Physiol. 2010;298:C298-312 pubmed publisher
    We studied the response of dysferlin-null and control skeletal muscle to large- and small-strain injuries to the ankle dorsiflexors in mice...
  11. von der Hagen M, Laval S, Cree L, Haldane F, Pocock M, Wappler I, et al. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord. 2005;15:863-77 pubmed
    ..The transcriptomes of proximal and distal muscles from wildtype C57BL/10 and dysferlin deficient C57BL/10...
  12. Cohen T, Cohen J, Partridge T. Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response. Neuromuscul Disord. 2012;22:648-58 pubmed publisher
    Limb-girdle muscular dystrophy type 2B results from mutations in dysferlin, a membrane-associated protein involved in cellular membrane repair...
  13. Davis D, Doherty K, Delmonte A, McNally E. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem. 2002;277:22883-8 pubmed
    Mutations in dysferlin, a novel membrane protein of unknown function, lead to muscular dystrophy. Myoferlin is highly homologous to dysferlin and like dysferlin is a plasma membrane protein with six C2 domains highly expressed in muscle...
  14. Han R, Frett E, Levy J, Rader E, Lueck J, Bansal D, et al. Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest. 2010;120:4366-74 pubmed publisher
    Mutations in the dysferlin gene underlie a group of autosomal recessive muscle-wasting disorders denoted as dysferlinopathies...
  15. Cai C, Weisleder N, Ko J, Komazaki S, Sunada Y, Nishi M, et al. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem. 2009;284:15894-902 pubmed publisher
    ..Although mutations in caveolin-3 (Cav3) and dysferlin are linked to muscular dystrophy in human patients, the molecular mechanism underlying the functional interplay ..
  16. Han R, Rader E, Levy J, Bansal D, Campbell K. Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice. Skelet Muscle. 2011;1:35 pubmed publisher
    Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with ?-dystroglycan...
  17. Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, et al. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. J Neuropathol Exp Neurol. 2005;64:334-40 pubmed
    The dysferlin gene is defective in Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin is a sarcolemmal protein that is implicated in calcium-dependent membrane repair...
  18. Zhang Y, Maksakova I, Gagnier L, van de Lagemaat L, Mager D. Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements. PLoS Genet. 2008;4:e1000007 pubmed publisher
    ..These extreme levels of polymorphism suggest that ERV insertions play a significant role in genetic drift of mouse lines...
  19. Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet. 2010;19:1897-907 pubmed publisher
    Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy...
  20. Han R, Bansal D, Miyake K, Muniz V, Weiss R, McNeil P, et al. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest. 2007;117:1805-13 pubmed
    ..We have previously shown that dysferlin deficiency leads to defective membrane resealing in skeletal muscle and muscle necrosis; however, the function ..
  21. Zhao P, Xu L, Ait Mou Y, de Tombe P, Han R. Equal force recovery in dysferlin-deficient and wild-type muscles following saponin exposure. J Biomed Biotechnol. 2011;2011:235216 pubmed publisher
    b>Dysferlin plays an important role in repairing membrane damage elicited by laser irradiation, and dysferlin deficiency causes muscular dystrophy and associated cardiomyopathy...
  22. de Morrée A, Hensbergen P, van Haagen H, Dragan I, Deelder A, t Hoen P, et al. Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. PLoS ONE. 2010;5:e13854 pubmed publisher
    b>Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin...
  23. Fujita E, Kouroku Y, Isoai A, Kumagai H, Misutani A, Matsuda C, et al. 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. 2007;16:618-29 pubmed
    b>Dysferlin is a type-II transmembrane protein and the causative gene of limb girdle muscular dystrophy type 2B and Miyoshi myopathy (LGMD2B/MM), in which specific loss of dysferlin labeling has been frequently observed...
  24. Roche J, Lovering R, Bloch R. Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo. Neuroreport. 2008;19:1579-84 pubmed publisher
    The protein, dysferlin, mediates sarcolemmal repair in vitro, implicating defective membrane repair in dysferlinopathies...
  25. Matsuda C, Kameyama K, Suzuki A, Mishima W, Yamaji S, Okamoto H, et al. Affixin activates Rac1 via betaPIX in C2C12 myoblast. FEBS Lett. 2008;582:1189-96 pubmed publisher
    ..These results suggest that affixin is involved in reorganization of subsarcolemmal cytoskeletal actin by activation of Rac1 through alpha and betaPIXs in skeletal muscle. ..
  26. Wenzel K, Geier C, Qadri F, Hubner N, Schulz H, Erdmann B, et al. Dysfunction of dysferlin-deficient hearts. J Mol Med (Berl). 2007;85:1203-14 pubmed
    Mutations in the gene encoding dysferlin cause limb-girdle muscular dystrophy 2B (LGMD2B), a disorder that is believed to spare the heart...
  27. Wenzel K, Zabojszcza J, Carl M, Taubert S, Lass A, Harris C, et al. Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J Immunol. 2005;175:6219-25 pubmed
    b>Dysferlin is expressed in skeletal and cardiac muscles. However, dysferlin deficiency results in skeletal muscle weakness, but spares the heart...
  28. Millay D, Maillet M, Roche J, Sargent M, McNally E, Bloch R, et al. Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. Am J Pathol. 2009;175:1817-23 pubmed publisher
    Mutations in the gene DYSF, which codes for the protein dysferlin, underlie Miyoshi myopathy and limb-girdle muscular dystrophy 2B in humans and produce a slowly progressing skeletal muscle degenerative disease in mice...
  29. Huang Y, Laval S, van Remoortere A, Baudier J, Benaud C, Anderson L, et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 2007;21:732-42 pubmed
    Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair...
  30. Uaesoontrachoon K, Cha H, Ampong B, Sali A, Vandermeulen J, Wei B, et al. The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. J Pathol. 2013;231:199-209 pubmed publisher
    An absence of dysferlin leads to activation of innate immune receptors such as Toll-like receptors (TLRs) and skeletal muscle inflammation...
  31. Defour A, Van Der Meulen J, Bhat R, Bigot A, Bashir R, Nagaraju K, et al. Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. Cell Death Dis. 2014;5:e1306 pubmed publisher
    b>Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for dysferlinopathy...
  32. Sharma P, Abbasi C, Lazic S, Teng A, Wang D, Dubois N, et al. Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. Nat Commun. 2015;6:8391 pubmed publisher
    ..Our data demonstrate that the membrane protein Tmem65 is an intercalated disc protein that interacts with and functionally regulates ventricular Cx43. ..
  33. Suzuki N, Aoki M, Hinuma Y, Takahashi T, Onodera Y, Ishigaki A, et al. Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL). Neurosci Res. 2005;52:47-60 pubmed
    ..quadriceps femoris muscles in order to find genes involved in the degeneration and regeneration process and in dysferlin's functional network...
  34. Sharma A, Yu C, Leung C, Trane A, Lau M, Utokaparch S, et al. A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis. Arterioscler Thromb Vasc Biol. 2010;30:2196-204 pubmed publisher
    ..The goal of this study was to document the presence of other ferlins in EC. EC expressed another ferlin, dysferlin, and that in contrast to myoferlin, it did not regulate VEGFR-2 expression levels or downstream signaling (..
  35. Kostek C, Dominov J, Miller J. Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. Am J Pathol. 2002;160:833-9 pubmed
    ..SJL/J mice show spontaneous myopathy and have a mutation in the dysferlin gene, a gene which is also mutated in human limb-girdle muscular dystrophy type 2B (LGMD2B)...
  36. Sher R, Aoyama C, Huebsch K, Ji S, Kerner J, Yang Y, et al. A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem. 2006;281:4938-48 pubmed
    ..The rmd mutant mouse offers the first demonstration of a defect in a phospholipid biosynthetic enzyme causing muscular dystrophy, representing a unique model for understanding mechanisms of muscle degeneration. ..
  37. Lin P, Zhu H, Cai C, Wang X, Cao C, Xiao R, et al. Nonmuscle myosin IIA facilitates vesicle trafficking for MG53-mediated cell membrane repair. FASEB J. 2012;26:1875-83 pubmed publisher
    ..Together, our data reveal NM-IIA as a key cytoskeleton motor protein that facilitates vesicle trafficking during MG53-mediated cell membrane repair. ..
  38. Barnabei M, Metzger J. Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts. PLoS ONE. 2012;7:e32880 pubmed publisher
    ..were obtained in isolated hearts from β-sarcoglycan-null and laminin-α(2) mutant mice, but not in dysferlin-null mice, suggesting that increased whole-organ compliance in mdx mice is a specific effect of disrupted cell-..
  39. Schmidt S, Vieweger A, Obst M, Mueller S, Gross V, Gutberlet M, et al. Dysferlin-deficient muscular dystrophy: gadofluorine M suitability at MR imaging in a mouse model. Radiology. 2009;250:87-94 pubmed publisher
    To compare the usefulness of gadofluorine M with that of Gadomer in assessment of dysferlin-deficient muscular dystrophy at 7.0-T magnetic resonance (MR) imaging. All experiments were approved by local review boards...
  40. Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, et al. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE. 2012;7:e38036 pubmed publisher
    Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy...
  41. Fuson K, Rice A, Mahling R, Snow A, Nayak K, Shanbhogue P, et al. Alternate splicing of dysferlin C2A confers Ca²?-dependent and Ca²?-independent binding for membrane repair. Structure. 2014;22:104-15 pubmed publisher
    b>Dysferlin plays a critical role in the Ca²?-dependent repair of microlesions that occur in the muscle sarcolemma...
  42. Defour A, Medikayala S, van der Meulen J, Hogarth M, Holdreith N, Malatras A, et al. Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. Hum Mol Genet. 2017;26:1979-1991 pubmed publisher
    Repair of skeletal muscle after sarcolemmal damage involves dysferlin and dysferlin-interacting proteins such as annexins. Mice and patient lacking dysferlin exhibit chronic muscle inflammation and adipogenic replacement of the myofibers...
  43. Lukyanenko V, Muriel J, Bloch R. Coupling of excitation to Ca2+ release is modulated by dysferlin. J Physiol. 2017;595:5191-5207 pubmed publisher
    b>Dysferlin, the protein missing in limb girdle muscular dystrophy 2B and Miyoshi myopathy, concentrates in transverse tubules of skeletal muscle, where it stabilizes voltage-induced Ca2+ transients against loss after osmotic ..
  44. Baek J, Many G, Evesson F, Kelley V. Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype. Am J Pathol. 2017;187:1245-1257 pubmed publisher
    ..Identifying pathways within the Dysf-deficient muscle milieu that regulate cyto-destructive macrophages will potentially uncover therapeutic strategies for dysferlinopathies. ..
  45. Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE. 2014;9:e106721 pubmed publisher
    ..We hypothesized that dysferlin functions may contribute to muscle cell viability in the knock-in mice; however, pathological interactions ..
  46. Heiman Patterson T, Deitch J, Blankenhorn E, Erwin K, Perreault M, Alexander B, et al. Background and gender effects on survival in the TgN(SOD1-G93A)1Gur mouse model of ALS. J Neurol Sci. 2005;236:1-7 pubmed
    ..This is the first report of a shortened lifespan when the G93A SOD1 transgene is placed on the SJL/J background and an increased survival with the loss of gender influences when the transgene is placed on the C57BL/6J background. ..
  47. Rubi L, Gawali V, Kubista H, Todt H, Hilber K, Koenig X. Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes. Cell Physiol Biochem. 2015;36:1049-58 pubmed publisher
    b>Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B)...
  48. Rawat R, Cohen T, Ampong B, Francia D, Henriques Pons A, Hoffman E, et al. Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. Am J Pathol. 2010;176:2891-900 pubmed publisher
    A deficiency of the dysferlin protein results in limb girdle muscular dystrophy type 2B and Miyoshi myopathy, with resulting plasma membrane abnormalities in myofibers...
  49. Hochmeister S, Bittner R, Hoger H, Lassmann H, Bradl M. The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiency. Autoimmunity. 2009;42:235-41 pubmed publisher
    Recent observations suggested that dysferlin might play a role in the development of autoimmune central nervous system (CNS) inflammation...
  50. Wang B, Yang Z, Brisson B, Feng H, Zhang Z, Welch E, et al. Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J Appl Physiol (1985). 2010;109:901-5 pubmed publisher
    Mutations that result in the loss of the protein dysferlin result in defective muscle membrane repair and cause either a form of limb girdle muscular dystrophy (type 2B) or Miyoshi myopathy...
  51. Vafiadaki E, Reis A, Keers S, Harrison R, Anderson L, Raffelsberger T, et al. Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport. 2001;12:625-9 pubmed
    ..Recently the SJL mouse was shown to have myopathy due to dysferlin deficiency, so that it can now be considered a natural animal model for limb-girdle muscular dystrophy type 2B (..
  52. Tzeng H, Evans S, Gao F, Chambers K, Topkara V, Sivasubramanian N, et al. Dysferlin mediates the cytoprotective effects of TRAF2 following myocardial ischemia reperfusion injury. J Am Heart Assoc. 2014;3:e000662 pubmed publisher
    ..profiling of MHC-TRAF2LC and MHC-TRAF2DN mice identified a calcium-triggered exocytotic membrane repair protein, dysferlin, as a potential cytoprotective gene responsible for the cytoprotective effects of TRAF2...
  53. Wang C, Wong J, Fung G, Shi J, Deng H, Zhang J, et al. Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy. Cell Microbiol. 2015;17:1423-30 pubmed publisher
    ..b>Dysferlin is a transmembrane protein highly expressed in skeletal and cardiac muscles...
  54. Turk R, Sterrenburg E, van der Wees C, de Meijer E, de Menezes R, Groh S, et al. Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J. 2006;20:127-9 pubmed
    ..dystrophin-deficient (mdx, mdx(3cv)), sarcoglycan-deficient (Sgca null, Sgcb null, Sgcg null, Sgcd null), dysferlin-deficient (Dysf null, SJL(Dysf)), sarcospan-deficient (Sspn null), and wild-type (C57Bl/6, C57Bl/10) mice...
  55. Hosur V, Kavirayani A, Riefler J, Carney L, Lyons B, Gott B, et al. Dystrophin and dysferlin double mutant mice: a novel model for rhabdomyosarcoma. Cancer Genet. 2012;205:232-41 pubmed publisher
    ..muscular dystrophy (MD) and sarcomas in human patients, literature suggests that the MD genes dystrophin and dysferlin act as tumor suppressor genes in mouse models of MD...
  56. Diaz Manera J, Touvier T, Dellavalle A, Tonlorenzi R, Tedesco F, Messina G, et al. Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. Cell Death Dis. 2010;1:e61 pubmed publisher
    b>Dysferlin deficiency leads to a peculiar form of muscular dystrophy due to a defect in sarcolemma repair and currently lacks a therapy. We developed a cell therapy protocol with wild-type adult murine mesoangioblasts...
  57. Barzilai Tutsch H, Bodanovsky A, Maimon H, Pines M, Halevy O. Halofuginone promotes satellite cell activation and survival in muscular dystrophies. Biochim Biophys Acta. 2016;1862:1-11 pubmed publisher
    ..These actions are of the utmost importance for improving muscle pathology and function in muscular dystrophies. ..
  58. Lovering R, O Neill A, Roche J, Bloch R. Identification of skeletal muscle mutations in tail snips from neonatal mice using immunohistochemistry. Biotechniques. 2007;42:702, 704 pubmed
  59. Burr A, Millay D, Goonasekera S, Park K, Sargent M, Collins J, et al. Na+ dysregulation coupled with Ca2+ entry through NCX1 promotes muscular dystrophy in mice. Mol Cell Biol. 2014;34:1991-2002 pubmed publisher
    ..Treatment of Sgcd(-/-) mice with ranolazine, a broadly acting Na(+) channel inhibitor that should increase NCX1 forward-mode operation, reduced muscular pathology. ..
  60. Balasubramanian A, Kawahara G, Gupta V, Rozkalne A, Beauvais A, Kunkel L, et al. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014;28:2955-69 pubmed publisher
    ..Fam65b binds to HDAC6 and dysferlin, the protein mutated in limb girdle muscular dystrophy 2B...
  61. Roche J, Tulapurkar M, Mueller A, Van Rooijen N, Hasday J, Lovering R, et al. Myofiber damage precedes macrophage infiltration after in vivo injury in dysferlin-deficient A/J mouse skeletal muscle. Am J Pathol. 2015;185:1686-98 pubmed publisher
    Mutations in the dysferlin gene (DYSF) lead to human muscular dystrophies known as dysferlinopathies...
  62. Terrill J, Radley Crabb H, Iwasaki T, Lemckert F, Arthur P, Grounds M. Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies. FEBS J. 2013;280:4149-64 pubmed publisher
    ..increased protein thiol oxidation and high levels of lipofuscin (a measure of cumulative oxidative damage) in dysferlin-deficient muscles of A/J mice at various ages...
  63. Lee Y, Lehar A, Sebald S, Liu M, Swaggart K, Talbot C, et al. Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. Hum Mol Genet. 2015;24:5711-9 pubmed publisher
    ..To investigate this possibility, we examined the effect of blocking the myostatin pathway in dysferlin-deficient (Dysf(-/-)) mice, in which membrane repair is compromised, either by transgenic expression of ..
  64. Rouillon J, Poupiot J, Zocevic A, Amor F, Léger T, García C, et al. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Hum Mol Genet. 2015;24:4916-32 pubmed publisher
    ..These data suggest that the MYOM3 fragments hold promise for minimally invasive assessment of experimental therapies for DMD and other neuromuscular disorders. ..
  65. Ma J, Pichavant C, du Bois H, Bhakta M, Calos M. DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. Mol Ther Methods Clin Dev. 2017;7:123-131 pubmed publisher
    Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B...
  66. Biondi O, Villemeur M, Marchand A, Chretien F, Bourg N, Gherardi R, et al. Dual effects of exercise in dysferlinopathy. Am J Pathol. 2013;182:2298-309 pubmed publisher
    Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair...
  67. Krajacic P, Pistilli E, Tanis J, Khurana T, Lamitina S. FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice. Biol Open. 2013;2:1245-52 pubmed publisher
    b>Dysferlin is a member of the evolutionarily conserved ferlin gene family. Mutations in Dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), an inherited, progressive and incurable muscle disorder...
  68. Laure L, Suel L, Roudaut C, Bourg N, Ouali A, Bartoli M, et al. Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. FEBS J. 2009;276:669-84 pubmed publisher
    ..or definitive denervation, as well as in four animal models of muscular dystrophies (deficient for calpain 3, dysferlin, alpha-sarcoglycan and dystrophin, respectively)...