메뉴 건너뛰기




Volumn 83, Issue 22, 2014, Pages 2062-2069

Dystrophin quantification: Biological and translational research implications

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

EID: 84921321554     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001025     Document Type: Article
Times cited : (68)

References (34)
  • 2
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: One gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2: 731-740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 3
    • 0027417446 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: II: Correlation of phenotype with genetic and protein abnormalities
    • Bushby KM, Gardner-Medwin D, Nicholson LV, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: II: correlation of phenotype with genetic and protein abnormalities. J Neurol 1993; 240: 105-112.
    • (1993) J Neurol , vol.240 , pp. 105-112
    • Bushby, K.M.1    Gardner-Medwin, D.2    Nicholson, L.V.3
  • 4
    • 34250073609 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I: Natural history
    • Bushby KM, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I: natural history. J Neurol 1993; 240: 98-104.
    • (1993) J Neurol , vol.240 , pp. 98-104
    • Bushby, K.M.1    Gardner-Medwin, D.2
  • 5
    • 0025647598 scopus 로고
    • Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
    • Chelly J, Gilgenkrantz H, Lambert M, et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 1990; 63: 1239-1248.
    • (1990) Cell , vol.63 , pp. 1239-1248
    • Chelly, J.1    Gilgenkrantz, H.2    Lambert, M.3
  • 6
    • 79955158683 scopus 로고    scopus 로고
    • Systemic administration of PRO051 in Duchenne's muscular dystrophy
    • Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011; 364: 1513-1522.
    • (2011) N Engl J Med , vol.364 , pp. 1513-1522
    • Goemans, N.M.1    Tulinius, M.2    Van Den Akker, J.T.3
  • 7
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-ofconcept study
    • Kinali M, Arechavala-Gomeza V, Feng L, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-ofconcept study. Lancet Neurol 2009; 8: 918-928.
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3
  • 8
    • 84862625633 scopus 로고    scopus 로고
    • Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: Progress and challenges
    • Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F. Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. Curr Gene Ther 2012; 12: 152-160.
    • (2012) Curr Gene Ther , vol.12 , pp. 152-160
    • Arechavala-Gomeza, V.1    Anthony, K.2    Morgan, J.3    Muntoni, F.4
  • 9
    • 80051690306 scopus 로고    scopus 로고
    • 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
    • Cirak S, Arechavala-Gomeza V, Guglieri M, et al. 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 2011; 378: 595-605.
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3
  • 10
    • 84856546632 scopus 로고    scopus 로고
    • Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy
    • Cirak S, Feng L, Anthony K, et al. Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther 2012; 20: 462-467.
    • (2012) Mol Ther , vol.20 , pp. 462-467
    • Cirak, S.1    Feng, L.2    Anthony, K.3
  • 11
    • 84890805770 scopus 로고    scopus 로고
    • Eteplirsen for the treatment of Duchenne muscular dystrophy
    • Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 2013; 74: 637-647.
    • (2013) Ann Neurol , vol.74 , pp. 637-647
    • Mendell, J.R.1    Rodino-Klapac, L.R.2    Sahenk, Z.3
  • 12
    • 33947529670 scopus 로고    scopus 로고
    • Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
    • Hirawat S, Welch EM, Elfring GL, et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 2007; 47: 430-444.
    • (2007) J Clin Pharmacol , vol.47 , pp. 430-444
    • Hirawat, S.1    Welch, E.M.2    Elfring, G.L.3
  • 13
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87-91.
    • (2007) Nature , vol.447 , pp. 87-91
    • Welch, E.M.1    Barton, E.R.2    Zhuo, J.3
  • 14
    • 77957725001 scopus 로고    scopus 로고
    • Dystrophin immunity in Duchenne's muscular dystrophy
    • Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010; 363: 1429-1437.
    • (2010) N Engl J Med , vol.363 , pp. 1429-1437
    • Mendell, J.R.1    Campbell, K.2    Rodino-Klapac, L.3
  • 15
    • 77952010104 scopus 로고    scopus 로고
    • Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials
    • Arechavala-Gomeza V, Kinali M, Feng L, et al. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord 2010; 20: 295-301.
    • (2010) Neuromuscul Disord , vol.20 , pp. 295-301
    • Arechavala-Gomeza, V.1    Kinali, M.2    Feng, L.3
  • 16
    • 84878746211 scopus 로고    scopus 로고
    • The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne muscular dystrophy patients with different exon deletions
    • Lourbakos A, Sipkens J, Beekman C, et al. The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne muscular dystrophy patients with different exon deletions. Neuromuscul Disord 2011; 21: 643.
    • (2011) Neuromuscul Disord , vol.21 , pp. 643
    • Lourbakos, A.1    Sipkens, J.2    Beekman, C.3
  • 17
    • 77952009340 scopus 로고    scopus 로고
    • The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA)
    • Meeting Steering Committee and TREATNMD Network , on September 25th 2009
    • Muntoni F; Meeting Steering Committee and TREATNMD Network. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010; 20: 355-362.
    • (2010) Neuromuscul Disord , vol.20 , pp. 355-362
    • Muntoni, F.1
  • 19
    • 77952372081 scopus 로고    scopus 로고
    • Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
    • Arechavala-Gomeza V, Kinali M, Feng L, et al. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol 2010; 36: 265-274.
    • (2010) Neuropathol Appl Neurobiol , vol.36 , pp. 265-274
    • Arechavala-Gomeza, V.1    Kinali, M.2    Feng, L.3
  • 20
    • 84907275529 scopus 로고    scopus 로고
    • A sensitive, reproducible and objective immunofluorescence analysis method of dystrophin in individual fibers in samples from patients with Duchenne muscular dystrophy
    • Beekman C, Sipkens JA, Testerink J, et al. A sensitive, reproducible and objective immunofluorescence analysis method of dystrophin in individual fibers in samples from patients with Duchenne muscular dystrophy. PLoS One 2014; 9: e107494.
    • (2014) PLoS One , vol.9 , pp. e107494
    • Beekman, C.1    Sipkens, J.A.2    Testerink, J.3
  • 21
    • 0000004140 scopus 로고
    • Measurement in medicine: The analysis of method comparison studies
    • Altman DG, Bland JM. Measurement in medicine: the analysis of method comparison studies. Statistician 1983; 32: 307-317.
    • (1983) Statistician , vol.32 , pp. 307-317
    • Altman, D.G.1    Bland, J.M.2
  • 22
    • 84926044113 scopus 로고    scopus 로고
    • European Medicines Agency. Guideline on bioanalytical method validation Accessed October 16, 2014
    • European Medicines Agency. Guideline on bioanalytical method validation. Available at: http://www.ema.europa.eu/docs/en-GB/document-library/Scientific-guideline/2011/08/WC500109686.pdf. Accessed October 16, 2014.
  • 23
    • 84908219488 scopus 로고
    • Statistical methods for assessing agreement between two methods of clinical measurement
    • Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1986; 1: 307-310.
    • (1986) Lancet , vol.1 , pp. 307-310
    • Bland, J.M.1    Altman, D.G.2
  • 24
    • 4344693568 scopus 로고    scopus 로고
    • Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of humanspecific antisense oligonucleotides
    • Bremmer-Bout M, Aartsma-Rus A, de Meijer EJ, et al. Targeted exon skipping in transgenic hDMD mice: a model for direct preclinical screening of humanspecific antisense oligonucleotides. Mol Ther 2004; 10: 232-240.
    • (2004) Mol Ther , vol.10 , pp. 232-240
    • Bremmer-Bout, M.1    Aartsma-Rus, A.2    De Meijer, E.J.3
  • 25
    • 41949122156 scopus 로고    scopus 로고
    • Generation and characterization of transgenic mice with the full-length human DMD gene
    • 't Hoen PA, de Meijer EJ, Boer JM, et al. Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem 2008; 283: 5899-5907.
    • (2008) J Biol Chem , vol.283 , pp. 5899-5907
    • Hoen P A '., T.1    De Meijer, E.J.2    Boer, J.M.3
  • 27
    • 0027275643 scopus 로고
    • A role for the dystrophinglycoprotein complex as a transmembrane linker between laminin and actin
    • Ervasti JM, Campbell KP. A role for the dystrophinglycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993; 122: 809-823.
    • (1993) J Cell Biol , vol.122 , pp. 809-823
    • Ervasti, J.M.1    Campbell, K.P.2
  • 28
    • 84891912677 scopus 로고    scopus 로고
    • The ZZ domain of dystrophin in DMD: Making sense of missense mutations
    • Vulin A, Wein N, Strandjord DM, et al. The ZZ domain of dystrophin in DMD: making sense of missense mutations. Hum Mutat 2014; 35: 257-264.
    • (2014) Hum Mutat , vol.35 , pp. 257-264
    • Vulin, A.1    Wein, N.2    Strandjord, D.M.3
  • 29
    • 0029122522 scopus 로고
    • Expression of human full-length and minidystrophin in transgenic mdx mice: Implications for gene therapy of Duchenne muscular dystrophy
    • Wells DJ, Wells KE, Asante EA, et al. Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 1995; 4: 1245-1250.
    • (1995) Hum Mol Genet , vol.4 , pp. 1245-1250
    • Wells, D.J.1    Wells, K.E.2    Asante, E.A.3
  • 30
    • 33846271135 scopus 로고    scopus 로고
    • Dystrophin, its interactions with other proteins, and implications for muscular dystrophy
    • Ervasti JM. Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim Biophys Acta 2007; 1772: 108-117.
    • (2007) Biochim Biophys Acta , vol.1772 , pp. 108-117
    • Ervasti, J.M.1
  • 31
    • 84863393437 scopus 로고    scopus 로고
    • The carboxy-terminal third of dystrophin enhances actin binding activity
    • Henderson DM, Lin AY, Thomas DD, Ervasti JM. The carboxy-terminal third of dystrophin enhances actin binding activity. J Mol Biol 2012; 416: 414-424.
    • (2012) J Mol Biol , vol.416 , pp. 414-424
    • Henderson, D.M.1    Lin, A.Y.2    Thomas, D.D.3    Ervasti, J.M.4
  • 33
    • 0029122523 scopus 로고
    • Expression of fulllength and truncated dystrophin mini-genes in transgenic mdx mice
    • Phelps SF, Hauser MA, Cole NM, et al. Expression of fulllength and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 1995; 4: 1251-1258.
    • (1995) Hum Mol Genet , vol.4 , pp. 1251-1258
    • Phelps, S.F.1    Hauser, M.A.2    Cole, N.M.3
  • 34
    • 84887993669 scopus 로고    scopus 로고
    • Accurate quantitation of dystrophin protein in human skeletal muscle using mass spectrometry
    • Brown KJ, Marathi R, Fiorillo AA, et al. Accurate quantitation of dystrophin protein in human skeletal muscle using mass spectrometry. J Bioanal Biomed 2012; (suppl 7): 001.
    • (2012) J Bioanal Biomed , pp. 001
    • Brown, K.J.1    Marathi, R.2    Fiorillo, A.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.