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Volumn 81, Issue 1, 2007, Pages 99-103

Aminoglycoside-induced translational read-through in disease: Overcoming nonsense mutations by pharmacogenetic therapy

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; ANTIBIOTIC G 418; GENTAMICIN; PAROMOMYCIN;

EID: 33845996905     PISSN: 00099236     EISSN: 15326535     Source Type: Journal    
DOI: 10.1038/sj.clpt.6100012     Document Type: Review
Times cited : (93)

References (35)
  • 2
    • 33845935532 scopus 로고    scopus 로고
    • Translational readthrough induction of pathogenic nonsense mutations
    • Kellermayer, R. Translational readthrough induction of pathogenic nonsense mutations. Eur. J. Med. Genet. (2006).
    • (2006) Eur. J. Med. Genet
    • Kellermayer, R.1
  • 4
    • 0036142862 scopus 로고    scopus 로고
    • Killing the messenger: New insights into nonsense-mediated mRNA decay
    • Byers, P.H. Killing the messenger: new insights into nonsense-mediated mRNA decay. J. Clin. Invest. 109, 3-6 (2002).
    • (2002) J. Clin. Invest , vol.109 , pp. 3-6
    • Byers, P.H.1
  • 5
    • 0028303798 scopus 로고    scopus 로고
    • Roberts, R.G., Gardner, R.J. & Bobrow, M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4, 1-11 (1994).
    • Roberts, R.G., Gardner, R.J. & Bobrow, M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4, 1-11 (1994).
  • 6
    • 0141639951 scopus 로고    scopus 로고
    • Pharmacologic approaches to correcting the basic defect in cystic fibrosis
    • Lukacs, G.L. & Durie, P.R. Pharmacologic approaches to correcting the basic defect in cystic fibrosis. N. Engl. J. Med. 349, 1401-1404 (2003).
    • (2003) N. Engl. J. Med , vol.349 , pp. 1401-1404
    • Lukacs, G.L.1    Durie, P.R.2
  • 8
    • 0014303830 scopus 로고
    • Mechanism of action of streptomycin in E. coli: Interruption of the ribosome cycle at the initiation of protein synthesis
    • Luzzatto, L., Apirion, D. & Schlessinger, D. Mechanism of action of streptomycin in E. coli: interruption of the ribosome cycle at the initiation of protein synthesis. Proc. Natl. Acad. Sci. USA 60, 873-880 (1968).
    • (1968) Proc. Natl. Acad. Sci. USA , vol.60 , pp. 873-880
    • Luzzatto, L.1    Apirion, D.2    Schlessinger, D.3
  • 9
    • 0032538956 scopus 로고    scopus 로고
    • Structural origins of gentamicin antibiotic action
    • Yoshizawa, S., Fourmy, D. & Puglisi, J.D. Structural origins of gentamicin antibiotic action. EMBO J. 17, 6437-6448 (1998).
    • (1998) EMBO J , vol.17 , pp. 6437-6448
    • Yoshizawa, S.1    Fourmy, D.2    Puglisi, J.D.3
  • 10
    • 0035805229 scopus 로고    scopus 로고
    • Recognition of cognate transfer RNA by the 30S ribosomal subunit
    • Ogle, J.M. et al. Recognition of cognate transfer RNA by the 30S ribosomal subunit. Science 292, 897-902 (2001).
    • (2001) Science , vol.292 , pp. 897-902
    • Ogle, J.M.1
  • 11
    • 0033152492 scopus 로고    scopus 로고
    • Basis for prokaryotic specificity of action of aminoglycoside antibiotics
    • Recht, M.I., Douthwaite, S. & Puglisi, J.D. Basis for prokaryotic specificity of action of aminoglycoside antibiotics. EMBO J. 18, 3133-3138 (1999).
    • (1999) EMBO J , vol.18 , pp. 3133-3138
    • Recht, M.I.1    Douthwaite, S.2    Puglisi, J.D.3
  • 12
    • 0022423513 scopus 로고
    • Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin
    • Burke, J.F. & Mogg, A.E. 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).
    • (1985) Nucleic Acids Res , vol.13 , pp. 6265-6272
    • Burke, J.F.1    Mogg, A.E.2
  • 13
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard, M., Frizzell, R.A. & Bedwell, D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat. Med. 2, 467-469 (1996).
    • (1996) Nat. Med , vol.2 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 14
    • 0030702773 scopus 로고    scopus 로고
    • Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
    • Bedwell, D.M. et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat. Med. 3, 1280-1284 (1997).
    • (1997) Nat. Med , vol.3 , pp. 1280-1284
    • Bedwell, D.M.1
  • 15
    • 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. & Sweeney, H.L. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 104, 375-381 (1999).
    • (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
  • 16
    • 0035997219 scopus 로고    scopus 로고
    • Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
    • Keeling, K.M. & Bedwell, D.M. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J. Mol. Med. 80, 367-376 (2002).
    • (2002) J. Mol. Med , vol.80 , pp. 367-376
    • Keeling, K.M.1    Bedwell, D.M.2
  • 17
    • 0033854425 scopus 로고    scopus 로고
    • Sequence specificity of aminoglycoside-induced stop condon readthrough: Potential implications for treatment of Duchenne muscular dystrophy
    • Howard, M.T. et al. Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann. Neurol. 48, 164-169 (2000).
    • (2000) Ann. Neurol , vol.48 , pp. 164-169
    • Howard, M.T.1
  • 18
    • 0029153552 scopus 로고
    • The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae
    • Bonetti, B., Fu, L., Moon, J. & Bedwell, D.M. The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae. J. Mol. Biol. 251, 334-345 (1995).
    • (1995) J. Mol. Biol , vol.251 , pp. 334-345
    • Bonetti, B.1    Fu, L.2    Moon, J.3    Bedwell, D.M.4
  • 19
    • 0034779875 scopus 로고    scopus 로고
    • Impact of the six nucleotides downstream of the stop codon on translation termination
    • 787-793
    • Namy, O., Hatin, I. & Rousset, J.P. Impact of the six nucleotides downstream of the stop codon on translation termination. EMBO Rep. 2, 787-793 (2001).
    • (2001) EMBO Rep , vol.2
    • Namy, O.1    Hatin, I.2    Rousset, J.P.3
  • 20
    • 0034961464 scopus 로고    scopus 로고
    • Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
    • Clancy, J.P. et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 163, 1683-1692 (2001).
    • (2001) Am. J. Respir. Crit. Care Med , vol.163 , pp. 1683-1692
    • Clancy, J.P.1
  • 21
    • 1842635586 scopus 로고    scopus 로고
    • Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
    • Hein, L.K. et al. Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J. Mol. Biol. 338, 453-462 (2004).
    • (2004) J. Mol. Biol , vol.338 , pp. 453-462
    • Hein, L.K.1
  • 22
    • 8144226267 scopus 로고    scopus 로고
    • Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
    • Lai, C.H. et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc. Natl. Acad. Sci. USA 101, 15676-15681 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 15676-15681
    • Lai, C.H.1
  • 23
    • 0036351425 scopus 로고    scopus 로고
    • Expression of CTNS alleles: Subcellular localization and aminoglycoside correction in vitro
    • Helip-Wooley, A., Park, M.A., Lemons, R.M. & Thoene, J.G. Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. Mol. Genet. Metab. 75, 128-133 (2002).
    • (2002) Mol. Genet. Metab , vol.75 , pp. 128-133
    • Helip-Wooley, A.1    Park, M.A.2    Lemons, R.M.3    Thoene, J.G.4
  • 24
    • 0043092426 scopus 로고    scopus 로고
    • Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
    • Politano, L. et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol. 22, 15-21 (2003).
    • (2003) Acta Myol , vol.22 , pp. 15-21
    • Politano, L.1
  • 25
    • 0034923247 scopus 로고    scopus 로고
    • Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis
    • Sleat, D.E., Sohar, I., Gin, R.M. & Lobel, P. Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. Eur. J. Paediatr. Neurol. 5, 57-62 (2001).
    • (2001) Eur. J. Paediatr. Neurol , vol.5 , pp. 57-62
    • Sleat, D.E.1    Sohar, I.2    Gin, R.M.3    Lobel, P.4
  • 26
    • 0141863491 scopus 로고    scopus 로고
    • Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
    • Wilschanski, M. et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 349, 1433-1441 (2003).
    • (2003) N. Engl. J. Med , vol.349 , pp. 1433-1441
    • Wilschanski, M.1
  • 27
    • 27644488290 scopus 로고    scopus 로고
    • Aminoglycoside suppression of nonsense mutations in severe hemophilia
    • James, P.D. et al. Aminoglycoside suppression of nonsense mutations in severe hemophilia. Blood 106, 3043-3048 (2005).
    • (2005) Blood , vol.106 , pp. 3043-3048
    • James, P.D.1
  • 28
    • 33646758850 scopus 로고    scopus 로고
    • Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII
    • Pinotti, M. et al. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. J. Thromb. Haemost. 4, 1308-1314 (2006).
    • (2006) J. Thromb. Haemost , vol.4 , pp. 1308-1314
    • Pinotti, M.1
  • 29
    • 2442527864 scopus 로고    scopus 로고
    • Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
    • Sangkuhl, K. et al. Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. Hum. Mol. Genet. 13, 893-903 (2004).
    • (2004) Hum. Mol. Genet , vol.13 , pp. 893-903
    • Sangkuhl, K.1
  • 30
    • 33644748200 scopus 로고    scopus 로고
    • Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease
    • Kellermayer, R., Szigeti, R., Keeling, K.M., Bedekovics, T. & Bedwell, D.M. Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. J. Invest. Dermatol. 126, 229-231 (2006).
    • (2006) J. Invest. Dermatol , vol.126 , pp. 229-231
    • Kellermayer, R.1    Szigeti, R.2    Keeling, K.M.3    Bedekovics, T.4    Bedwell, D.M.5
  • 31
    • 33745635351 scopus 로고    scopus 로고
    • Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation
    • Olson, T.M. et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum. Mol. Genet. 15, 2185-2191 (2006).
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2185-2191
    • Olson, T.M.1
  • 32
    • 26844562977 scopus 로고    scopus 로고
    • Expression of SPCA1 (Hailey-Hailey disease gene product) in acantholytic dermatoses
    • Porgpermdee, S. et al. Expression of SPCA1 (Hailey-Hailey disease gene product) in acantholytic dermatoses. J. Dermatol. Sci. 40, 137-140 (2005).
    • (2005) J. Dermatol. Sci , vol.40 , pp. 137-140
    • Porgpermdee, S.1
  • 33
    • 33644889412 scopus 로고    scopus 로고
    • Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency
    • Schroers, A. et al. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 66, 285-286 (2006).
    • (2006) Neurology , vol.66 , pp. 285-286
    • Schroers, A.1
  • 34
    • 0034982292 scopus 로고    scopus 로고
    • Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
    • Wagner, K.R. et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann. Neurol. 49, 706-711 (2001).
    • (2001) Ann. Neurol , vol.49 , pp. 706-711
    • Wagner, K.R.1
  • 35
    • 2442586453 scopus 로고    scopus 로고
    • Enhanced production of functional proteins from defective genes
    • Xi, B., Guan, F. & Lawrence, D.S. Enhanced production of functional proteins from defective genes. J. Am. Chem. Soc. 126, 5660-5661 (2004).
    • (2004) J. Am. Chem. Soc , vol.126 , pp. 5660-5661
    • Xi, B.1    Guan, F.2    Lawrence, D.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.