메뉴 건너뛰기




Volumn 6, Issue 12, 2011, Pages

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN; CD14 ANTIGEN; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

EID: 83455262487     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029061     Document Type: Article
Times cited : (39)

References (38)
  • 1
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, et al. (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20: 37-42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5
  • 2
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, Wu C, Fardeau M, et al. (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20: 31-36.
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3    Wu, C.4    Fardeau, M.5
  • 3
    • 34247226211 scopus 로고    scopus 로고
    • Symptomatic dysferlin gene mutation carriers: characterization of two cases
    • Illa I, De Luna N, Dominguez-Perles R, Rojas-Garcia R, Paradas C, et al. (2007) Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 68: 1284-1289.
    • (2007) Neurology , vol.68 , pp. 1284-1289
    • Illa, I.1    de Luna, N.2    Dominguez-Perles, R.3    Rojas-Garcia, R.4    Paradas, C.5
  • 4
    • 0035109410 scopus 로고    scopus 로고
    • Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
    • Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, et al. (2001) Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49: 130-134.
    • (2001) Ann Neurol , vol.49 , pp. 130-134
    • Illa, I.1    Serrano-Munuera, C.2    Gallardo, E.3    Lasa, A.4    Rojas-Garcia, R.5
  • 6
    • 34547882325 scopus 로고    scopus 로고
    • Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes
    • Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, et al. (2007) Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64: 1176-1182.
    • (2007) Arch Neurol , vol.64 , pp. 1176-1182
    • Nguyen, K.1    Bassez, G.2    Krahn, M.3    Bernard, R.4    Laforet, P.5
  • 7
    • 40749084768 scopus 로고    scopus 로고
    • Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT
    • Okahashi S, Ogawa G, Suzuki M, Ogata K, Nishino I, et al. (2008) Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. Intern Med 47: 305-307.
    • (2008) Intern Med , vol.47 , pp. 305-307
    • Okahashi, S.1    Ogawa, G.2    Suzuki, M.3    Ogata, K.4    Nishino, I.5
  • 9
    • 23844433967 scopus 로고    scopus 로고
    • Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population
    • Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garcia R, et al. (2005) Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 62: 1256-1259.
    • (2005) Arch Neurol , vol.62 , pp. 1256-1259
    • Vilchez, J.J.1    Gallano, P.2    Gallardo, E.3    Lasa, A.4    Rojas-Garcia, R.5
  • 11
    • 77955159118 scopus 로고    scopus 로고
    • Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
    • Paradas C, Llauger J, Diaz-Manera J, Rojas-Garcia R, De Luna N, et al. (2010) Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 75: 316-323.
    • (2010) Neurology , vol.75 , pp. 316-323
    • Paradas, C.1    Llauger, J.2    Diaz-Manera, J.3    Rojas-Garcia, R.4    de Luna, N.5
  • 12
    • 0036135804 scopus 로고    scopus 로고
    • A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
    • Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, et al. (2002) A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 51: 129-133.
    • (2002) Ann Neurol , vol.51 , pp. 129-133
    • Ho, M.1    Gallardo, E.2    McKenna-Yasek, D.3    de Luna, N.4    Illa, I.5
  • 14
    • 38749153262 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis
    • Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, et al. (2008) Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 18: 34-44.
    • (2008) Neuromuscul Disord , vol.18 , pp. 34-44
    • Lo, H.P.1    Cooper, S.T.2    Evesson, F.J.3    Seto, J.T.4    Chiotis, M.5
  • 15
    • 0033673056 scopus 로고    scopus 로고
    • Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
    • Piccolo F, Moore SA, Ford GC, Campbell KP, (2000) Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 48: 902-912.
    • (2000) Ann Neurol , vol.48 , pp. 902-912
    • Piccolo, F.1    Moore, S.A.2    Ford, G.C.3    Campbell, K.P.4
  • 16
    • 0038629355 scopus 로고    scopus 로고
    • Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
    • Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, et al. (2003) Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci 211: 23-28.
    • (2003) J Neurol Sci , vol.211 , pp. 23-28
    • Tagawa, K.1    Ogawa, M.2    Kawabe, K.3    Yamanaka, G.4    Matsumura, T.5
  • 17
    • 0036942395 scopus 로고    scopus 로고
    • Miyoshi myopathy patients with novel 5′ splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma
    • Saito A, Higuchi I, Nakagawa M, Saito M, Hirata K, et al. (2002) Miyoshi myopathy patients with novel 5′ splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. Acta Neuropathol 104: 615-620.
    • (2002) Acta Neuropathol , vol.104 , pp. 615-620
    • Saito, A.1    Higuchi, I.2    Nakagawa, M.3    Saito, M.4    Hirata, K.5
  • 19
    • 0347379869 scopus 로고    scopus 로고
    • Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
    • Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, et al. (2003) Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 278: 50466-50473.
    • (2003) J Biol Chem , vol.278 , pp. 50466-50473
    • Lennon, N.J.1    Kho, A.2    Bacskai, B.J.3    Perlmutter, S.L.4    Hyman, B.T.5
  • 20
    • 44849138794 scopus 로고    scopus 로고
    • Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
    • Huang Y, de Morree A, van Remoortere A, Bushby K, Frants RR, et al. (2008) Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 17: 1855-1866.
    • (2008) Hum Mol Genet , vol.17 , pp. 1855-1866
    • Huang, Y.1    de Morree, A.2    van Remoortere, A.3    Bushby, K.4    Frants, R.R.5
  • 21
    • 20544465385 scopus 로고    scopus 로고
    • Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display
    • Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, et al. (2005) Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet 13: 721-730.
    • (2005) Eur J Hum Genet , vol.13 , pp. 721-730
    • Huang, Y.1    Verheesen, P.2    Roussis, A.3    Frankhuizen, W.4    Ginjaar, I.5
  • 22
    • 0035880516 scopus 로고    scopus 로고
    • The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, et al. (2001) The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 10: 1761-1766.
    • (2001) Hum Mol Genet , vol.10 , pp. 1761-1766
    • Matsuda, C.1    Hayashi, Y.K.2    Ogawa, M.3    Aoki, M.4    Murayama, K.5
  • 23
    • 33847406320 scopus 로고    scopus 로고
    • AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
    • Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, et al. (2007) 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) Faseb J , vol.21 , pp. 732-742
    • Huang, Y.1    Laval, S.H.2    van Remoortere, A.3    Baudier, J.4    Benaud, C.5
  • 25
    • 33344455688 scopus 로고    scopus 로고
    • Intracellular localization of dysferlin and its association with the dihydropyridine receptor
    • Ampong BN, Imamura M, Matsumiya T, Yoshida M, Takeda S, (2005) Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol 24: 134-144.
    • (2005) Acta Myol , vol.24 , pp. 134-144
    • Ampong, B.N.1    Imamura, M.2    Matsumiya, T.3    Yoshida, M.4    Takeda, S.5
  • 26
    • 67650133653 scopus 로고    scopus 로고
    • Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
    • Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, et al. (2009) Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem 284: 15894-15902.
    • (2009) J Biol Chem , vol.284 , pp. 15894-15902
    • Cai, C.1    Weisleder, N.2    Ko, J.K.3    Komazaki, S.4    Sunada, Y.5
  • 27
    • 77956299233 scopus 로고    scopus 로고
    • Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle
    • Azakir BA, Di Fulvio S, Therrien C, Sinnreich M, (2010) Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. PLoS One 5: e10122.
    • (2010) PLoS One , vol.5
    • Azakir, B.A.1    Di Fulvio, S.2    Therrien, C.3    Sinnreich, M.4
  • 28
    • 0033784812 scopus 로고    scopus 로고
    • Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
    • Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, et al. (2000) Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 10: 553-559.
    • (2000) Neuromuscul Disord , vol.10 , pp. 553-559
    • Anderson, L.V.1    Harrison, R.M.2    Pogue, R.3    Vafiadaki, E.4    Pollitt, C.5
  • 29
    • 4444324529 scopus 로고    scopus 로고
    • Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
    • Chrobakova T, Hermanova M, Kroupova I, Vondracek P, Marikova T, et al. (2004) Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord 14: 659-665.
    • (2004) Neuromuscul Disord , vol.14 , pp. 659-665
    • Chrobakova, T.1    Hermanova, M.2    Kroupova, I.3    Vondracek, P.4    Marikova, T.5
  • 30
    • 33644502934 scopus 로고    scopus 로고
    • Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
    • Hermanova M, Zapletalova E, Sedlackova J, Chrobakova T, Letocha O, et al. (2006) Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. Muscle Nerve 33: 424-432.
    • (2006) Muscle Nerve , vol.33 , pp. 424-432
    • Hermanova, M.1    Zapletalova, E.2    Sedlackova, J.3    Chrobakova, T.4    Letocha, O.5
  • 31
    • 80052033151 scopus 로고    scopus 로고
    • Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
    • Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, et al. (2011) Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet.
    • (2011) Eur J Hum Genet
    • Cacciottolo, M.1    Numitone, G.2    Aurino, S.3    Caserta, I.R.4    Fanin, M.5
  • 32
    • 0035846620 scopus 로고    scopus 로고
    • Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients
    • Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, et al. (2001) Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57: 2136-2138.
    • (2001) Neurology , vol.57 , pp. 2136-2138
    • Gallardo, E.1    Rojas-Garcia, R.2    de Luna, N.3    Pou, A.4    Brown Jr., R.H.5
  • 33
    • 41849086671 scopus 로고    scopus 로고
    • Dysferlin-deficient muscular dystrophy features amyloidosis
    • Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, et al. (2008) Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 63: 323-328.
    • (2008) Ann Neurol , vol.63 , pp. 323-328
    • Spuler, S.1    Carl, M.2    Zabojszcza, J.3    Straub, V.4    Bushby, K.5
  • 36
    • 5644295319 scopus 로고    scopus 로고
    • In vivo and in vitro dysferlin expression in human muscle satellite cells
    • De Luna N, Gallardo E, Illa I, (2004) In vivo and in vitro dysferlin expression in human muscle satellite cells. J Neuropathol Exp Neurol 63: 1104-1113.
    • (2004) J Neuropathol Exp Neurol , vol.63 , pp. 1104-1113
    • de Luna, N.1    Gallardo, E.2    Illa, I.3
  • 37
    • 0032929386 scopus 로고    scopus 로고
    • Multiplex Western blotting system for the analysis of muscular dystrophy proteins
    • Anderson LV, Davison K, (1999) Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 154: 1017-1022.
    • (1999) Am J Pathol , vol.154 , pp. 1017-1022
    • Anderson, L.V.1    Davison, K.2
  • 38
    • 27844542729 scopus 로고    scopus 로고
    • Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene
    • Paradas C, Fernandez-Cadenas I, Gallardo E, Llige D, Arenas J, et al. (2005) Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene. Neurosci Lett 391: 28-31.
    • (2005) Neurosci Lett , vol.391 , pp. 28-31
    • Paradas, C.1    Fernandez-Cadenas, I.2    Gallardo, E.3    Llige, D.4    Arenas, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.