메뉴 건너뛰기




Volumn 10, Issue 4, 2016, Pages 387-391

Ataluren for the treatment of cystic fibrosis

Author keywords

Ataluren; Cystic fibrosis; Ivacaftor; Molecular consequences of class of mutation; Premature termination codons; Therapy directed at the basic defect

Indexed keywords

ATALUREN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; TOBRAMYCIN;

EID: 84959042114     PISSN: 17476348     EISSN: 17476356     Source Type: Journal    
DOI: 10.1586/17476348.2016.1150181     Document Type: Article
Times cited : (8)

References (34)
  • 1
    • 18344387226 scopus 로고    scopus 로고
    • Sorscher EJ cystic fibrosis
    • Rowe SM, Miller S. Sorscher EJ cystic fibrosis. N Engl J Med. 2005;352:1992-2001.
    • (2005) N Engl J Med , vol.352 , pp. 1992-2001
    • Rowe, S.M.1    Miller, S.2
  • 2
    • 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
  • 3
    • 41149111377 scopus 로고    scopus 로고
    • PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
    • Du M, Liu X, Welch EM, et al. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A. 2008;105:2064-2069.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2064-2069
    • Du, M.1    Liu, X.2    Welch, E.M.3
  • 4
    • 80052324997 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay and cystic fibrosis
    • Linde L, Kerem B, Nonsense-mediated mRNA decay and cystic fibrosis. Methods Mol Biol. 2011;741:137-154.
    • (2011) Methods Mol Biol , vol.741 , pp. 137-154
    • Linde, L.1    Kerem, B.2
  • 5
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations ñ correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations ñ correlation with incidence data and application to screening. Hum Mutat. 2002;19 (6):575-606.
    • (2002) Hum Mutat , vol.19 , Issue.6 , pp. 575-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3
  • 6
    • 0031292686 scopus 로고    scopus 로고
    • Cystic fibrosis in Jews: Frequency and mutation distribution
    • Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test. 1997;1(1):35-39.
    • (1997) Genet Test , vol.1 , Issue.1 , pp. 35-39
    • Kerem, B.1    Chiba-Falek, O.2    Kerem, E.3
  • 7
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
    • Shoshani T, Augarten A, Gazit E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet. 1992;50(1):222-228.
    • (1992) Am J Hum Genet , vol.50 , Issue.1 , pp. 222-228
    • Shoshani, T.1    Augarten, A.2    Gazit, E.3
  • 8
    • 22044438841 scopus 로고    scopus 로고
    • Genotype-phenotype correlation for pulmonary function in cystic fibrosis
    • De Gracia J, Mata F, Alvarez A, et al. Genotype-phenotype correlation for pulmonary function in cystic fibrosis. Thorax. 2005;60 (7):558-563.
    • (2005) Thorax , vol.60 , Issue.7 , pp. 558-563
    • De Gracia, J.1    Mata, F.2    Alvarez, A.3
  • 9
    • 84961741180 scopus 로고    scopus 로고
    • CF Foundation
    • CF Foundation. Patients registry 2012. Available from: http://www.cysticfibrosisdata.org/ReportsUS.html file:///C:/Documents%20and%20Settings/shoseyov/My%20Documents/Downloads/2012-CFFPatient-Registry.pdf
    • (2012) Patients Registry
  • 10
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 11
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3
  • 12
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear CE, Li CH, Kartner N, et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell. 1992;68:809-819.
    • (1992) Cell , vol.68 , pp. 809-819
    • Bear, C.E.1    Li, C.H.2    Kartner, N.3
  • 13
    • 0028860909 scopus 로고
    • Correlation of sweat chloride analysis with classes of CFTR gene mutations
    • Wilschanski M, Zielenski J, Markiewicz D, et al. Correlation of sweat chloride analysis with classes of CFTR gene mutations. J Pediatr. 1995;127:705-710.
    • (1995) J Pediatr , vol.127 , pp. 705-710
    • Wilschanski, M.1    Zielenski, J.2    Markiewicz, D.3
  • 14
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M, Frizzell RA, Bedwell DM, Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med. 1996;2:467-469.
    • (1996) Nat Med , vol.2 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 15
    • 0034961464 scopus 로고    scopus 로고
    • Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
    • Clancy JP, Bebök Z, Ruiz F, et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med. 2001;163:1683-1692.
    • (2001) Am J Respir Crit Care Med , vol.163 , pp. 1683-1692
    • Clancy, J.P.1    Bebök, Z.2    Ruiz, F.3
  • 16
    • 0141863491 scopus 로고    scopus 로고
    • Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
    • Wilschanski M, Yahav Y, Yaacov Y, et al., Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med. 2003;349:1433-1441.
    • (2003) N Engl J Med , vol.349 , pp. 1433-1441
    • Wilschanski, M.1    Yahav, Y.2    Yaacov, Y.3
  • 17
    • 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, et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest. 2007;117:683-692.
    • (2007) J Clin Invest , vol.117 , pp. 683-692
    • Linde, L.1    Boelz, S.2    Nissim-Rafinia, M.3
  • 18
    • 49149098054 scopus 로고    scopus 로고
    • A meta-analysis of nonsense mutations causing human genetic disease
    • Mort M, Ivanov D, Cooper DN, et al. A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat. 2008;29:1037-1047.
    • (2008) Hum Mutat , vol.29 , pp. 1037-1047
    • Mort, M.1    Ivanov, D.2    Cooper, D.N.3
  • 19
    • 84930635335 scopus 로고    scopus 로고
    • NMD: At the crossroads between translation termination and ribosome recycling
    • Celik A, Kervestin S, Jacobson A. NMD: at the crossroads between translation termination and ribosome recycling. Biochimie. 2015;114:2-9.
    • (2015) Biochimie , vol.114 , pp. 2-9
    • Celik, A.1    Kervestin, S.2    Jacobson, A.3
  • 20
    • 84867850145 scopus 로고    scopus 로고
    • NMD: A multifaceted response to premature translational termination
    • Kervestin S, Jacobson A. NMD: a multifaceted response to premature translational termination. Nat Rev Mol Biol. 2012;13:700-712.
    • (2012) Nat Rev Mol Biol , vol.13 , pp. 700-712
    • Kervestin, S.1    Jacobson, A.2
  • 21
    • 77953133544 scopus 로고    scopus 로고
    • 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, et al. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem. 2010;18:3735-3746.
    • (2010) Bioorg Med Chem , vol.18 , pp. 3735-3746
    • Nudelman, I.1    Glikin, D.2    Smolkin, B.3
  • 22
    • 84898715557 scopus 로고    scopus 로고
    • Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor
    • Xue X, Mutyam V, Tang L, et al., Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor. Am J Respir Cell Mol Biol. 2014;50:805-816.
    • (2014) Am J Respir Cell Mol Biol , vol.50 , pp. 805-816
    • Xue, X.1    Mutyam, V.2    Tang, L.3
  • 23
    • 84900364018 scopus 로고    scopus 로고
    • Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: A computational approach and GFP-reporter cell-based assay
    • Lentini L, Melfi R, Di Leonardo A, et al. Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: a computational approach and GFP-reporter cell-based assay. Mol Pharm. 2014;11(3):653-664.
    • (2014) Mol Pharm , vol.11 , Issue.3 , pp. 653-664
    • Lentini, L.1    Melfi, R.2    Di Leonardo, A.3
  • 24
    • 84879391161 scopus 로고    scopus 로고
    • A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays
    • McElroy SP, Nomura T, Torrie LS, et al. A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol. 2013;11: e1001593.
    • (2013) PLoS Biol , vol.11 , pp. e1001593
    • McElroy, S.P.1    Nomura, T.2    Torrie, L.S.3
  • 25
    • 84868199631 scopus 로고    scopus 로고
    • Sense from nonsense: Therapies for premature stop codon diseases
    • Bidou L, Allamand V, Rousset JP, et al. Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med. 2012;18:679-688.
    • (2012) Trends Mol Med , vol.18 , pp. 679-688
    • Bidou, L.1    Allamand, V.2    Rousset, J.P.3
  • 26
    • 85028120652 scopus 로고    scopus 로고
    • Rescue of nonsense mutations by amlexanox in human cells
    • Gonzalez-Hilarion S, Beghyn T, Jia J, et al. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis. 2012;31:58.
    • (2012) Orphanet J Rare Dis , vol.31 , pp. 58
    • Gonzalez-Hilarion, S.1    Beghyn, T.2    Jia, J.3
  • 27
    • 84910627623 scopus 로고    scopus 로고
    • Ataluren: First global approval
    • Ryan NJ. Ataluren: first global approval. Drugs. 2014;74:1709-1714.
    • (2014) Drugs , vol.74 , pp. 1709-1714
    • Ryan, N.J.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 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
  • 29
    • 78349290383 scopus 로고    scopus 로고
    • Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
    • Sermet-Gaudelus I, Boeck KD, Casimir GJ, et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med. 2010;15 (182):1262-1272.
    • (2010) Am J Respir Crit Care Med , vol.15 , Issue.182 , pp. 1262-1272
    • Sermet-Gaudelus, I.1    Boeck, K.D.2    Casimir, G.J.3
  • 30
    • 50149098401 scopus 로고    scopus 로고
    • Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: A prospective phase II trial
    • Kerem E, Hirawat S, Armoni S, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008;30:719-727.
    • (2008) Lancet , vol.30 , pp. 719-727
    • Kerem, E.1    Hirawat, S.2    Armoni, S.3
  • 31
    • 79960187095 scopus 로고    scopus 로고
    • Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
    • Wilschanski M, Miller LL, Shoseyov D, et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J. 2011;38:59-69.
    • (2011) Eur Respir J , vol.38 , pp. 59-69
    • Wilschanski, M.1    Miller, L.L.2    Shoseyov, D.3
  • 32
    • 84904016376 scopus 로고    scopus 로고
    • Cystic fibrosis ataluren study group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: A randomized, double-blind, placebo-controlled phase 3 trial
    • Kerem E, Konstan MW, De Boeck K, et al. cystic fibrosis ataluren study group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomized, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014;2:539-547.
    • (2014) Lancet Respir Med , vol.2 , pp. 539-547
    • Kerem, E.1    Konstan, M.W.2    De Boeck, K.3
  • 33
    • 84884545931 scopus 로고    scopus 로고
    • Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: A review of the evidence
    • Kotha K, Clancy JP. Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: a review of the evidence. Ther Adv Respir Dis. 2013;7:288-296.
    • (2013) Ther Adv Respir Dis , vol.7 , pp. 288-296
    • Kotha, K.1    Clancy, J.P.2
  • 34
    • 84874711555 scopus 로고    scopus 로고
    • Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation
    • Sermet-Gaudelus I. Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation. Eur Respir Rev. 2013;22:66-71.
    • (2013) Eur Respir Rev , vol.22 , pp. 66-71
    • Sermet-Gaudelus, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.