메뉴 건너뛰기




Volumn 3, Issue 6, 2010, Pages 379-389

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy

Author keywords

DMD; dystrophinopathy; gentamicin; mutation suppression; readthrough

Indexed keywords

AMIKACIN; AMINOGLYCOSIDE ANTIBIOTIC AGENT; ANTIBIOTIC G 418; ATALUREN; CREATINE KINASE; CYSTATIN C; DYSTROPHIN; GAMMA INTERFERON; GENTAMICIN; NB 54; NB 74; NB 84; NEGAMYCIN; POLYASPARTIC ACID; TOBRAMYCIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

EID: 78649914981     PISSN: 17562856     EISSN: None     Source Type: Journal    
DOI: 10.1177/1756285610388693     Document Type: Review
Times cited : (69)

References (62)
  • 1
    • 0034641893 scopus 로고    scopus 로고
    • Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy
    • Ahmad, A., Brinson, M., Hodges, B.L., Chamberlain, J.S. and Amalfitano, A. ( 2000) Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy. Hum Mol Genet 9: 2507-2515.
    • (2000) Hum Mol Genet , vol.9 , pp. 2507-2515
    • Ahmad, A.1    Brinson, M.2    Hodges, B.L.3    Chamberlain, J.S.4    Amalfitano, A.5
  • 3
    • 0347993773 scopus 로고    scopus 로고
    • Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice
    • Arakawa, M., Shiozuka, M., Nakayama, Y., Hara, T., Hamada, M., Kondo, S. et al. (2003) Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J Biochem 134: 751-758.
    • (2003) J Biochem , vol.134 , pp. 751-758
    • Arakawa, M.1    Shiozuka, M.2    Nakayama, Y.3    Hara, T.4    Hamada, M.5    Kondo, S.6
  • 4
    • 0032720705 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    • Barton-Davis, E.R., Cordier, L., Shoturma, D.I., Leland, S.E. and Sweeney, H.L. ( 1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104: 375-381.
    • (1999) J Clin Invest , vol.104 , pp. 375-381
    • Barton-Davis, E.R.1    Cordier, L.2    Shoturma, D.I.3    Leland, S.E.4    Sweeney, H.L.5
  • 5
    • 0030702773 scopus 로고    scopus 로고
    • Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
    • Bedwell, D.M., Kaenjak, A., Benos, D.J., Bebok, Z., Bubien, J.K., Hong, J. et al. (1997) Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 3: 1280-1284.
    • (1997) Nat Med , vol.3 , pp. 1280-1284
    • Bedwell, D.M.1    Kaenjak, A.2    Benos, D.J.3    Bebok, Z.4    Bubien, J.K.5    Hong, J.6
  • 6
    • 1842586020 scopus 로고    scopus 로고
    • Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment
    • Bidou, L., Hatin, I., Perez, N., Allamand, V., Panthier, J.J. and Rousset, J.P. ( 2004) Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment. Gene Ther 11: 619-627.
    • (2004) Gene Ther , vol.11 , pp. 619-627
    • Bidou, L.1    Hatin, I.2    Perez, N.3    Allamand, V.4    Panthier, J.J.5    Rousset, J.P.6
  • 7
    • 33646478253 scopus 로고    scopus 로고
    • Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
    • Biggar, W.D., Harris, V.A., Eliasoph, L. and Alman, B. ( 2006) Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 16: 249-255.
    • (2006) Neuromuscul Disord , vol.16 , pp. 249-255
    • Biggar, W.D.1    Harris, V.A.2    Eliasoph, L.3    Alman, B.4
  • 8
    • 0022423513 scopus 로고
    • Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin
    • Burke, J.F. and Mogg, A.E. ( 1985) Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 13: 6265-6272.
    • (1985) Nucleic Acids Res , vol.13 , pp. 6265-6272
    • Burke, J.F.1    Mogg, A.E.2
  • 9
    • 72149108443 scopus 로고    scopus 로고
    • (2010) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    • Bushby, K., Finkel, R., Birnkrant, D.J., Case, L.E., Clemens, P.R., Cripe, L. et al. (2010) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 9: 77-93.
    • Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3    Case, L.E.4    Clemens, P.R.5    Cripe, L.6
  • 10
    • 0024600620 scopus 로고
    • Association of dystrophin and an integral membrane glycoprotein
    • Campbell, K.P. and Kahl, S.D. ( 1989) Association of dystrophin and an integral membrane glycoprotein. Nature 338: 259-262.
    • (1989) Nature , vol.338 , pp. 259-262
    • Campbell, K.P.1    Kahl, S.D.2
  • 12
    • 53749088724 scopus 로고    scopus 로고
    • Gentamicin treatment in exercised mdx mice: Identification of dystrophin-sensitive pathways and evaluation of efficacy in work-loaded dystrophic muscle
    • de Luca, A., Nico, B., Rolland, J.F., Cozzoli, A., Burdi, R., Mangieri, D. et al. (2008) 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) Neurobiol Dis , vol.32 , pp. 243-253
    • de Luca, A.1    Nico, B.2    Rolland, J.F.3    Cozzoli, A.4    Burdi, R.5    Mangieri, D.6
  • 14
    • 70350448984 scopus 로고    scopus 로고
    • (2009 a) Nonaminoglycoside compounds induce readthrough of nonsense mutations
    • Du, L., Damoiseaux, R., Nahas, S., Gao, K., Hu, H., Pollard, J.M. et al. (2009 a) Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med 206: 2285-2297.
    • J Exp Med , vol.206 , pp. 2285-2297
    • Du, L.1    Damoiseaux, R.2    Nahas, S.3    Gao, K.4    Hu, H.5    Pollard, J.M.6
  • 15
    • 0036379141 scopus 로고    scopus 로고
    • Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTRG542X transgene
    • Du, M., Jones, J.R., Lanier, J., Keeling, K.M., Lindsey, J.R., Tousson, A. et al. (2002) Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTRG542X transgene. J Mol Med 80: 595-604.
    • (2002) J Mol Med , vol.80 , pp. 595-604
    • Du, M.1    Jones, J.R.2    Lanier, J.3    Keeling, K.M.4    Lindsey, J.R.5    Tousson, A.6
  • 16
    • 65449188724 scopus 로고    scopus 로고
    • (2009 b) Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model
    • Du, M., Keeling, K.M., Fan, L., Liu, X. and Bedwell, D.M. (2009 b) Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model. J Biol Chem 284: 6885-6892.
    • J Biol Chem , vol.284 , pp. 6885-6892
    • Du, M.1    Keeling, K.M.2    Fan, L.3    Liu, X.4    Bedwell, D.M.5
  • 17
    • 33745628041 scopus 로고    scopus 로고
    • Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model
    • Du, M., Keeling, K.M., Fan, L., Liu, X., Kovacs, T., Sorscher, E. et al. (2006) Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model. J Mol Med 84: 573-582.
    • (2006) J Mol Med , vol.84 , pp. 573-582
    • Du, M.1    Keeling, K.M.2    Fan, L.3    Liu, X.4    Kovacs, T.5    Sorscher, E.6
  • 18
    • 0037408464 scopus 로고    scopus 로고
    • Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle
    • Dunant, P., Walter, M.C., Karpati, G. and Lochmuller, H. ( 2003) Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 27: 624-627.
    • (2003) Muscle Nerve , vol.27 , pp. 624-627
    • Dunant, P.1    Walter, M.C.2    Karpati, G.3    Lochmuller, H.4
  • 19
    • 0025272250 scopus 로고
    • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
    • Ervasti, J.M., Ohlendieck, K., Kahl, S.D., Gaver, M.G. and Campbell, K.P. ( 1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345: 315-319.
    • (1990) Nature , vol.345 , pp. 315-319
    • Ervasti, J.M.1    Ohlendieck, K.2    Kahl, S.D.3    Gaver, M.G.4    Campbell, K.P.5
  • 20
    • 38049092550 scopus 로고    scopus 로고
    • Eukaryotic ribosomal RNA determinants of aminoglycoside resistance and their role in translational fidelity
    • Fan-Minogue, H. and Bedwell, D.M. ( 2008) Eukaryotic ribosomal RNA determinants of aminoglycoside resistance and their role in translational fidelity. RNA 14: 148-157.
    • (2008) RNA , vol.14 , pp. 148-157
    • Fan-Minogue, H.1    Bedwell, D.M.2
  • 22
    • 0029825658 scopus 로고    scopus 로고
    • Structure of the A site of Escherichia coli 16S ribosomal RNA complexed with an aminoglycoside antibiotic
    • Fourmy, D., Recht, M.I., Blanchard, S.C. and Puglisi, J.D. ( 1996) Structure of the A site of Escherichia coli 16S ribosomal RNA complexed with an aminoglycoside antibiotic. Science 274: 1367-1371.
    • (1996) Science , vol.274 , pp. 1367-1371
    • Fourmy, D.1    Recht, M.I.2    Blanchard, S.C.3    Puglisi, J.D.4
  • 23
    • 0014905796 scopus 로고
    • Mutation rate in Duchenne type of muscular dystrophy
    • Gardner-Medwin, D. ( 1970) Mutation rate in Duchenne type of muscular dystrophy. J Med Genet 7: 334-337.
    • (1970) J Med Genet , vol.7 , pp. 334-337
    • Gardner-Medwin, D.1
  • 24
    • 49649123142 scopus 로고    scopus 로고
    • RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology
    • Ghahramani Seno, M.M., Graham, I.R., Athanasopoulos, T., Trollet, C., Pohlschmidt, M., Crompton, M.R. et al. (2008) RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology. Hum Mol Genet 17: 2622-2632.
    • (2008) Hum Mol Genet , vol.17 , pp. 2622-2632
    • Ghahramani Seno, M.M.1    Graham, I.R.2    Athanasopoulos, T.3    Trollet, C.4    Pohlschmidt, M.5    Crompton, M.R.6
  • 25
    • 33751064254 scopus 로고    scopus 로고
    • Drug evaluation: PTC-124-a potential treatment of cystic fibrosis and Duchenne muscular dystrophy
    • Hamed, S.A. ( 2006) Drug evaluation: PTC-124-a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs 9: 783-789.
    • (2006) IDrugs , vol.9 , pp. 783-789
    • Hamed, S.A.1
  • 26
    • 0036127393 scopus 로고    scopus 로고
    • Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy
    • Harper, S.Q., Hauser, M.A., DelloRusso, C., Duan, D., Crawford, R.W., Phelps, S.F. et al. (2002) Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med 8: 253-261.
    • (2002) Nat Med , vol.8 , pp. 253-261
    • Harper, S.Q.1    Hauser, M.A.2    DelloRusso, C.3    Duan, D.4    Crawford, R.W.5    Phelps, S.F.6
  • 27
    • 34547093657 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics: Old drugs and new therapeutic approaches
    • Harmann, T. ( 2007) Aminoglycoside antibiotics: Old drugs and new therapeutic approaches. Cell Mol Life Sci 64: 1841-1852.
    • (2007) Cell Mol Life Sci , vol.64 , pp. 1841-1852
    • Harmann, T.1
  • 28
    • 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, E.M., Elfring, G.L., Northcutt, V.J., Paushkin, S., Hwang, S. et al. (2007) 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 47: 430-444.
    • (2007) J Clin Pharmacol , vol.47 , pp. 430-444
    • Hirawat, S.1    Welch, E.M.2    Elfring, G.L.3    Northcutt, V.J.4    Paushkin, S.5    Hwang, S.6
  • 29
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman, E.P., Brown Jr, R.H. and Kunkel, L.M. ( 1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown Jr, R.H.2    Kunkel, L.M.3
  • 30
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard, M., Frizzell, R.A. and Bedwell, D.M. ( 1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2: 467-469.
    • (1996) Nat Med , vol.2 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 31
    • 0033854425 scopus 로고    scopus 로고
    • Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy
    • Howard, M.T., Shirts, B.H., Petros, L.M., Flanigan, K.M., Gesteland, R.F. and Atkins, J.F. ( 2000) Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 48: 164-169.
    • (2000) Ann Neurol , vol.48 , pp. 164-169
    • Howard, M.T.1    Shirts, B.H.2    Petros, L.M.3    Flanigan, K.M.4    Gesteland, R.F.5    Atkins, J.F.6
  • 32
    • 50149098401 scopus 로고    scopus 로고
    • Effectiveness of PTC 124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
    • Kerem, E., Hirawat, S., Armoni, S., Yaakov, Y., Shoseyov, D., Cohen, M. et al. (2008) Effectiveness of PTC 124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372: 719-727.
    • (2008) Lancet , vol.372 , pp. 719-727
    • Kerem, E.1    Hirawat, S.2    Armoni, S.3    Yaakov, Y.4    Shoseyov, D.5    Cohen, M.6
  • 33
    • 23944526782 scopus 로고    scopus 로고
    • A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
    • Kimura, S., Ito, K., Miyagi, T., Hiranuma, T., Yoshioka, K., Ozasa, S. et al. (2005) A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy. Brain Dev 27: 400-405.
    • (2005) Brain Dev , vol.27 , pp. 400-405
    • Kimura, S.1    Ito, K.2    Miyagi, T.3    Hiranuma, T.4    Yoshioka, K.5    Ozasa, S.6
  • 34
    • 34248201124 scopus 로고    scopus 로고
    • Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy
    • King, W.M., Ruttencutter, R., Nagaraja, H.N., Matkovic, V., Landoll, J., Hoyle, C. et al. (2007) Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology 68: 1607-1613.
    • (2007) Neurology , vol.68 , pp. 1607-1613
    • King, W.M.1    Ruttencutter, R.2    Nagaraja, H.N.3    Matkovic, V.4    Landoll, J.5    Hoyle, C.6
  • 35
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig, M., Hoffman, E.P., Bertelson, C.J., Monaco, A.P., Feener, C. and Kunkel, L.M. ( 1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 36
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig, M., Monaco, A.P. and Kunkel, L.M. ( 1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-228.
    • (1988) Cell , vol.53 , pp. 219-228
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 37
    • 33847360602 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
    • Linde, L., Boelz, S., Nissim-Rafinia, M., Oren, Y.S., Wilschanski, M., Yaacov, Y. et al. (2007) Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 117: 683-692.
    • (2007) J Clin Invest , vol.117 , pp. 683-692
    • Linde, L.1    Boelz, S.2    Nissim-Rafinia, M.3    Oren, Y.S.4    Wilschanski, M.5    Yaacov, Y.6
  • 38
    • 1842423373 scopus 로고    scopus 로고
    • Absence of dystrophin in mice reduces NO-dependent vascular function and vascular density: total recovery after a treatment with the aminoglycoside gentamicin
    • Loufrani, L., Dubroca, C., You, D., Li, Z., Levy, B., Paulin, D. et al. (2004) Absence of dystrophin in mice reduces NO-dependent vascular function and vascular density: total recovery after a treatment with the aminoglycoside gentamicin. Arterioscler Thromb Vasc Biol 24: 671-676.
    • (2004) Arterioscler Thromb Vasc Biol , vol.24 , pp. 671-676
    • Loufrani, L.1    Dubroca, C.2    You, D.3    Li, Z.4    Levy, B.5    Paulin, D.6
  • 39
    • 0021319355 scopus 로고
    • The influence of aminoglycoside antibiotics on the in vitro function of rat liver ribosomes
    • Loveless, M.O., Kohlhepp, S.J. and Gilbert, D.N. ( 1984) The influence of aminoglycoside antibiotics on the in vitro function of rat liver ribosomes. J Lab Clin Med 103: 294-303.
    • (1984) J Lab Clin Med , vol.103 , pp. 294-303
    • Loveless, M.O.1    Kohlhepp, S.J.2    Gilbert, D.N.3
  • 40
    • 77952938084 scopus 로고    scopus 로고
    • (2010) Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy
    • Malik, V., Rodino-Klapac, L.R., Viollet, L., Wall, C., King, W., Al-Dahhak, R. et al. (2010) Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 67: 771-780.
    • Ann Neurol , vol.67 , pp. 771-780
    • Malik, V.1    Rodino-Klapac, L.R.2    Viollet, L.3    Wall, C.4    King, W.5    Al-Dahhak, R.6
  • 41
    • 0033929810 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
    • Manuvakhova, M., Keeling, K. and Bedwell, D.M. ( 2000) Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6: 1044-1055.
    • (2000) RNA , vol.6 , pp. 1044-1055
    • Manuvakhova, M.1    Keeling, K.2    Bedwell, D.M.3
  • 42
    • 0024379177 scopus 로고
    • Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells
    • Martin, R., Mogg, A.E., Heywood, L.A., Nitschke, L. and Burke, J.F. ( 1989) Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells. Mol Gen Genet 217: 411-418.
    • (1989) Mol Gen Genet , vol.217 , pp. 411-418
    • Martin, R.1    Mogg, A.E.2    Heywood, L.A.3    Nitschke, L.4    Burke, J.F.5
  • 43
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell, J.R., Buzin, C.H., Feng, J., Yan, J., Serrano, C., Sangani, D.S. et al. (2001) Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57: 645-650.
    • (2001) Neurology , vol.57 , pp. 645-650
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3    Yan, J.4    Serrano, C.5    Sangani, D.S.6
  • 44
    • 0015219671 scopus 로고
    • Duchenne muscular dystrophy: functional ischemia reproduces its characteristic lesions
    • Mendell, J.R., Engel, W.K. and Derrer, E.C. ( 1971) Duchenne muscular dystrophy: functional ischemia reproduces its characteristic lesions. Science 172: 1143-1145.
    • (1971) Science , vol.172 , pp. 1143-1145
    • Mendell, J.R.1    Engel, W.K.2    Derrer, E.C.3
  • 45
    • 0024332294 scopus 로고
    • Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
    • Mendell, J.R., Moxley, R.T., Griggs, R.C., Brooke, M.H., Fenichel, G.M., Miller, J.P. et al. (1989) Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med 320: 1592-1597.
    • (1989) N Engl J Med , vol.320 , pp. 1592-1597
    • Mendell, J.R.1    Moxley, R.T.2    Griggs, R.C.3    Brooke, M.H.4    Fenichel, G.M.5    Miller, J.P.6
  • 47
    • 0032104190 scopus 로고    scopus 로고
    • A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
    • Nagy, E. and Maquat, L.E. ( 1998) A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23: 198-199.
    • (1998) Trends Biochem Sci , vol.23 , pp. 198-199
    • Nagy, E.1    Maquat, L.E.2
  • 48
    • 36248985708 scopus 로고    scopus 로고
    • Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
    • Neri, M., Torelli, S., Brown, S., Ugo, I., Sabatelli, P., Merlini, L. et al. (2007) Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord 17: 913-918.
    • (2007) Neuromuscul Disord , vol.17 , pp. 913-918
    • Neri, M.1    Torelli, S.2    Brown, S.3    Ugo, I.4    Sabatelli, P.5    Merlini, L.6
  • 49
    • 77953133544 scopus 로고    scopus 로고
    • (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
    • Nudelman, I., Glikin, D., Smolkin, B., Hainrichson, M., Belakhov, V. and Baasov, T. (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem 18: 3735-3746.
    • Bioorg Med Chem , vol.18 , pp. 3735-3746
    • Nudelman, I.1    Glikin, D.2    Smolkin, B.3    Hainrichson, M.4    Belakhov, V.5    Baasov, T.6
  • 50
    • 65649136885 scopus 로고    scopus 로고
    • (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations
    • Nudelman, I., Rebibo-Sabbah, A., Cherniavsky, M., Belakhov, V., Hainrichson, M., Chen, F. et al. (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52: 2836-2845.
    • J Med Chem , vol.52 , pp. 2836-2845
    • Nudelman, I.1    Rebibo-Sabbah, A.2    Cherniavsky, M.3    Belakhov, V.4    Hainrichson, M.5    Chen, F.6
  • 52
    • 0034610326 scopus 로고    scopus 로고
    • Functional muscle ischemia in neuronal nitric oxide synthasedeficient skeletal muscle of children with Duchenne muscular dystrophy
    • Sander, M., Chavoshan, B., Harris, S.A., Iannaccone, S.T., Stull, J.T., Thomas, G.D. et al. (2000) Functional muscle ischemia in neuronal nitric oxide synthasedeficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A 97: 13818-13823.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 13818-13823
    • Sander, M.1    Chavoshan, B.2    Harris, S.A.3    Iannaccone, S.T.4    Stull, J.T.5    Thomas, G.D.6
  • 53
    • 76949115313 scopus 로고
    • Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds
    • Stephens, F.E. and Tyler, F.H. ( 1951) Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds. Am J Hum Genet 3: 111-125.
    • (1951) Am J Hum Genet , vol.3 , pp. 111-125
    • Stephens, F.E.1    Tyler, F.H.2
  • 54
    • 70449204926 scopus 로고
    • Muscular dystrophy in Northern Ireland. IV. Some additional data
    • Stevenson, A.C. ( 1958) Muscular dystrophy in Northern Ireland. IV. Some additional data. Ann Hum Genet 22: 231-234.
    • (1958) Ann Hum Genet , vol.22 , pp. 231-234
    • Stevenson, A.C.1
  • 57
    • 0034982292 scopus 로고    scopus 로고
    • Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
    • Wagner, K.R., Hamed, S., Hadley, D.W., Gropman, A.L., Burstein, A.H., Escolar, D.M. et al. (2001) Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 49: 706-711.
    • (2001) Ann Neurol , vol.49 , pp. 706-711
    • Wagner, K.R.1    Hamed, S.2    Hadley, D.W.3    Gropman, A.L.4    Burstein, A.H.5    Escolar, D.M.6
  • 58
    • 85044699571 scopus 로고
    • On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies
    • Walton, J.N., Race, R.R. and Philip, U. ( 1955) On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies. Ann Hum Genet 20: 1-38.
    • (1955) Ann Hum Genet , vol.20 , pp. 1-38
    • Walton, J.N.1    Race, R.R.2    Philip, U.3
  • 59
    • 0033044501 scopus 로고    scopus 로고
    • Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
    • Wilton, S.D., Lloyd, F., Carville, K., Fletcher, S., Honeyman, K., Agrawal, S. et al. (1999) Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord 9: 330-338.
    • (1999) Neuromuscul Disord , vol.9 , pp. 330-338
    • Wilton, S.D.1    Lloyd, F.2    Carville, K.3    Fletcher, S.4    Honeyman, K.5    Agrawal, S.6
  • 60
    • 0026681101 scopus 로고
    • Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene
    • Worton, R.G. ( 1992) Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene. J Inherit Metab Dis 15: 539-550.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 539-550
    • Worton, R.G.1
  • 61
    • 0025242185 scopus 로고
    • Glycoprotein complex anchoring dystrophin to sarcolemma
    • Yoshida, M. and Ozawa, E. ( 1990) Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 108: 748-752.
    • (1990) J Biochem , vol.108 , pp. 748-752
    • Yoshida, M.1    Ozawa, E.2
  • 62
    • 0032538956 scopus 로고    scopus 로고
    • Structural origins of gentamicin antibiotic action
    • Yoshizawa, S., Fourmy, D. and Puglisi, J.D. ( 1998) Structural origins of gentamicin antibiotic action. EMBO J 17: 6437-6448.
    • (1998) EMBO J , vol.17 , pp. 6437-6448
    • Yoshizawa, S.1    Fourmy, D.2    Puglisi, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.