DYSF

Summary

Gene Symbol: DYSF
Description: dysferlin
Alias: FER1L1, LGMD2B, MMD1, dysferlin, dystrophy-associated fer-1-like 1, fer-1-like family member 1, fer-1-like protein 1, limb girdle muscular dystrophy 2B (autosomal recessive)
Species: human
Products:     DYSF

Top Publications

  1. Leshinsky Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, et al. Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. Neuromuscul Disord. 2007;17:950-4 pubmed
    b>Dysferlin encoding gene (DYS) is mutated in the autosomal recessive disorders Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy, causing dysferlin deficiency in muscle biopsy...
  2. Pramono Z, Tan C, Seah I, See J, Kam S, Lai P, et al. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. Hum Genet. 2009;125:413-20 pubmed publisher
    In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e...
  3. Rosales X, Gastier Foster J, Lewis S, Vinod M, Thrush D, Astbury C, et al. Novel diagnostic features of dysferlinopathies. Muscle Nerve. 2010;42:14-21 pubmed publisher
    ..Six subjects had atypical calf enlargement, and 3 of these exhibited a paradoxical pattern of dysferlin expression: severely reduced by direct immunofluorescence with overexpression on Western blots...
  4. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998;20:37-42 pubmed
    ..The proposed name 'dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology.
  5. 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...
  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. Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers S, et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology. 2001;57:271-8 pubmed
    Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
  8. Vilchez J, Gallano P, Gallardo E, Lasa A, Rojas García R, Freixas A, et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol. 2005;62:1256-9 pubmed
    Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy...
  9. Anderson L, Davison K, Moss J, Young C, Cullen M, Walsh J, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet. 1999;8:855-61 pubmed
    ..b>Dysferlin, the protein product of the gene, is a novel molecule without homology to any known mammalian protein...

More Information

Publications70

  1. Illa I, de Luna N, Dominguez Perles R, Rojas Garcia R, Paradas C, Palmer J, et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology. 2007;68:1284-9 pubmed
    To describe two symptomatic dysferlin gene mutation carriers. One patient had limb girdle weakness. His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G)...
  2. 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...
  3. Ro L, Lee Chen G, Lin T, Wu Y, Chen C, Lin C, et al. Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. Arch Neurol. 2004;61:1594-9 pubmed
    ..MM) and limb girdle muscular dystrophy type 2B (LGMD2B) were found to map to the same mutant gene encoding for dysferlin on chromosome 2p13...
  4. Foxton R, Laval S, Bushby K. Characterisation of the dysferlin skeletal muscle promoter. Eur J Hum Genet. 2004;12:127-31 pubmed
    Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy...
  5. De Luna N, Gallardo E, Illa I. In vivo and in vitro dysferlin expression in human muscle satellite cells. J Neuropathol Exp Neurol. 2004;63:1104-13 pubmed
    b>Dysferlin is a protein of the sarcolemma that is mutated in patients with limb girdle muscular dystrophy 2B, Miyoshi myopathy, and distal anterior myopathy. It has been implicated in muscle signaling and sarcolemma repair...
  6. Illa I, Serrano Munuera C, Gallardo E, Lasa A, Rojas Garcia R, Palmer J, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol. 2001;49:130-4 pubmed
    We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group...
  7. Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, et al. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J. 2007;21:1768-76 pubmed
    The dysferlin gene is mutated in limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy...
  8. Matsuda C, Aoki M, Hayashi Y, Ho M, Arahata K, Brown R. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology. 1999;53:1119-22 pubmed
    Recently we reported that mutations in a muscle protein "dysferlin" are present in limb girdle muscular dystrophy-2B and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM)...
  9. Matsuda C, Hayashi Y, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet. 2001;10:1761-6 pubmed
    b>Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (..
  10. 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 ..
  11. 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...
  12. 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...
  13. Kawabe K, Goto K, Nishino I, Angelini C, Hayashi Y. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol. 2004;11:657-61 pubmed
    Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known ..
  14. Patel P, Harris R, Geddes S, Strehle E, Watson J, Bashir R, et al. Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. J Mol Biol. 2008;379:981-90 pubmed publisher
    Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy...
  15. 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...
  16. 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...
  17. Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore S, et al. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol. 2008;63:323-8 pubmed publisher
    b>Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood...
  18. Kesari A, Fukuda M, Knoblach S, Bashir R, Nader G, Rao D, et al. Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. Am J Pathol. 2008;173:1476-87 pubmed publisher
    Mutations in the dysferlin gene cause limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy...
  19. Evesson F, Peat R, Lek A, Brilot F, Lo H, Dale R, et al. Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. J Biol Chem. 2010;285:28529-39 pubmed publisher
    ..b>Dysferlin mutations cause inherited muscular dystrophy, and dysferlin also shows abnormal plasma membrane expression in ..
  20. Fanin M, Nascimbeni A, Angelini C. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscul Disord. 2006;16:792-9 pubmed
    ..While the quantity of beta-sarcoglycan was nearly normal in the LGMD2E carrier, the levels of dysferlin protein were reduced to 50% of controls in the carriers of LGMD2B...
  21. 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 (..
  22. Klinge L, Dean A, Kress W, Dixon P, Charlton R, Müller J, et al. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord. 2008;18:288-90 pubmed publisher
    LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and wasting with onset usually within the second or third decade of life...
  23. Paradas C, Gonzalez Quereda L, de Luna N, Gallardo E, Garcia Consuegra I, Gomez H, et al. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord. 2009;19:21-5 pubmed publisher
    ..Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene (DYSF) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings...
  24. 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...
  25. Krahn M, Borges A, Navarro C, Schuit R, Stojkovic T, Torrente Y, et al. Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genet Test Mol Biomarkers. 2009;13:439-42 pubmed publisher
    ..the first time the characterization of disease-causing exonic rearrangements in the large-sized gene encoding dysferlin. A newly developed kit for multiplex ligation-dependent probe amplification analysis of the dysferlin gene was ..
  26. Paradas C, Llauger J, Diaz Manera J, Rojas Garcia R, de Luna N, Iturriaga C, et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010;75:316-23 pubmed publisher
    The most frequent phenotypes of dysferlin myopathy are limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM)...
  27. Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, et al. Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet. 2005;13:721-30 pubmed
    Mutations in dysferlin, a member of the fer1-like protein family that plays a role in membrane integrity and repair, can give rise to a spectrum of neuromuscular disorders with phenotypic variability including limb-girdle muscular ..
  28. 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)...
  29. Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009;30:E345-75 pubmed publisher
    ..Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (..
  30. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998;20:31-6 pubmed
    ..9-kb muscle cDNA, and we designate the corresponding protein 'dysferlin'...
  31. Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho Iam T, Limwongse C, et al. Novel DYSF mutations in Thai patients with distal myopathy. Clin Neurol Neurosurg. 2009;111:613-8 pubmed publisher
    Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF...
  32. 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...
  33. Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, et al. A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. Eur J Neurol. 2007;14:1288-91 pubmed
    Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene...
  34. Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia M, Sironi M, et al. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord. 2003;13:788-95 pubmed
    b>Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair...
  35. Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, et al. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat. 2005;26:283 pubmed
    ..b>Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 ..
  36. Santos R, Oliveira J, Vieira E, Coelho T, Carneiro A, Evangelista T, et al. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. J Hum Genet. 2010;55:546-9 pubmed publisher
    ..dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin-a sarcolemma-associated protein involved in membrane repair...
  37. 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 ..
  38. De Luna N, Gallardo E, Soriano M, Dominguez Perles R, de la Torre C, Rojas García R, et al. Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro". J Biol Chem. 2006;281:17092-8 pubmed
    Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy. Dysferlin may be involved in muscle repair and differentiation...
  39. Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007;64:1176-82 pubmed
    To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency.
  40. Therrien C, Di Fulvio S, Pickles S, Sinnreich M. Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides. Biochemistry. 2009;48:2377-84 pubmed publisher
    b>Dysferlin is a type II transmembrane protein implicated in Ca(2+)-dependent sarcolemmal membrane repair. Dysferlin has seven C2 domains, which are lipid and protein binding modules...
  41. Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, et al. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve. 2010;41:166-73 pubmed publisher
    Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy...
  42. Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella Branger D, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat. 2005;26:165 pubmed
    DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies...
  43. Therrien C, Dodig D, Karpati G, Sinnreich M. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. J Neurol Sci. 2006;250:71-8 pubmed
    b>Dysferlin is a large sarcolemmal protein implicated in the repair of surface membrane tears in muscle cells. Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy...
  44. Lo H, Cooper S, Evesson F, Seto J, Chiotis M, Tay V, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008;18:34-44 pubmed
    ..Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients...
  45. Cali Daylan A, Dincer P. Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. Neuromuscul Disord. 2017;27:269-277 pubmed publisher
    Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease characterized by progressive muscle degeneration...
  46. Confalonieri P, Oliva L, Andreetta F, Lorenzoni R, Dassi P, Mariani E, et al. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol. 2003;142:130-6 pubmed
    ..of inflammatory myopathies but also occurs in muscular dystrophy with lack of the sarcolemmal protein dysferlin. We quantified inflammatory cells and major histocompatibility complex (MHC) expression in muscle from 10 ..
  47. Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E. Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle. Int J Biochem Cell Biol. 2013;45:1927-38 pubmed publisher
    ..These mutations cause scarcity or complete absence of dysferlin, a protein that is expressed in skeletal muscle and plays a role in membrane repair...
  48. Vila M, Rayavarapu S, Hogarth M, van der Meulen J, Horn A, Defour A, et al. Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy. Cell Death Differ. 2017;24:330-342 pubmed publisher
    ..the ability of dystrophic muscle cell membranes to repair and are associated with a compensatory increase in dysferlin-mediated membrane repair proteins...
  49. 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...
  50. Quattrocelli M, Salamone I, Page P, Warner J, Demonbreun A, McNally E. Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy. Am J Pathol. 2017;187:2520-2535 pubmed publisher
    ..LGMD 2B is caused by loss of dysferlin, a membrane repair protein, and LGMD 2C is caused by loss of the dystrophin-associated protein, γ-sarcoglycan...
  51. Cea L, Bevilacqua J, Arriagada C, Cardenas A, Bigot A, Mouly V, et al. The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. BMC Cell Biol. 2016;17 Suppl 1:15 pubmed publisher
    Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies...
  52. Weiler T, Bashir R, Anderson L, Davison K, Moss J, Britton S, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet. 1999;8:871-7 pubmed
    ..and Miyoshi myopathy (MM), a distal muscular dystrophy, are both caused by mutations in the recently cloned gene dysferlin, gene symbol DYSF. Two large pedigrees have been described which have both types of patient in the same families...
  53. Schoewel V, Marg A, Kunz S, Overkamp T, Carrazedo R, Zacharias U, et al. Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. PLoS ONE. 2012;7:e49603 pubmed publisher
    Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy...
  54. Ankala A, Nallamilli B, Rufibach L, Hwang E, Hegde M. Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. Muscle Nerve. 2014;50:333-9 pubmed publisher
    b>Dysferlin deficiency causes dysferlinopathies. Among peripheral blood mononuclear cells (PBMCs), the dysferlin protein is expressed specifically in CD14(+) monocytes...
  55. Vandre D, Ackerman W, Kniss D, Tewari A, Mori M, Takizawa T, et al. Dysferlin is expressed in human placenta but does not associate with caveolin. Biol Reprod. 2007;77:533-42 pubmed
    A proteomics screen of human placental microvillous syncytiotrophoblasts (STBs) revealed the expression of dysferlin (DYSF), a plasma membrane repair protein associated with certain muscular dystrophies...
  56. Rosas Vargas H, Gómez Díaz B, Ruano Calderón L, Fernández Valverde F, Roque Ramírez B, Portillo Bobadilla T, et al. Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family. Genet Test. 2007;11:391-6 pubmed publisher
    b>Dysferlin protein (DYSF) is a ferlin family member found in sarcolemma and is involved in membrane repair, muscle differentiation, membrane fusion, etc...
  57. Lang C, Markham K, Behrendt N, Suarez A, Samuels P, Vandre D, et al. Placental dysferlin expression is reduced in severe preeclampsia. Placenta. 2009;30:711-8 pubmed publisher
    b>Dysferlin (DYSF) and myoferlin (MYOF), members of the ferlin family of membrane proteins, are co-expressed in human placental syncytiotrophoblast (STB)...
  58. Cacciottolo M, Numitone G, Aurino S, Caserta I, Fanin M, Politano L, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011;19:974-80 pubmed publisher
    b>Dysferlin is a 237-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the anterior tibialis...
  59. Krahn M, Labelle V, Borges A, Bartoli M, Levy N. Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. Genet Test Mol Biomarkers. 2010;14:153-4 pubmed publisher
    Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies...
  60. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 1994;3:455-7 pubmed
    ..This work identifies a second locus for autosomal recessive limb-girdle muscular dystrophy. ..
  61. Sellers S, Milad N, White Z, Pascoe C, Chan R, Payne G, et al. Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. J Lipid Res. 2018;59:261-272 pubmed publisher
    ..However, animal models fail to fully reproduce the disease severity observed in humans, with dysferlin-null (Dysf-/-) mice exhibiting minor muscle damage and weakness without dramatic ambulatory ..