New drugs for cystic fibrosis

Bibliography

• Cystic Fibrosis Foundation. Patient Registry 2007 annual report. Bethesda, Maryland: cystic fibrosis foundation. Available from: http://www.cff.org/ID=4573/TYPE=2676/2004%20Patient%20Registry%20Report.pdf
   Google Scholar
• Kerem B, Rommens JM, Buchanan WJA, Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80
   PubMed Web of Science ®Google Scholar
• Rommens JM, Iannuzzi MC, Kerem B, Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65
   PubMed Web of Science ®Google Scholar
• Riordan JR, Rommens JM, Kerem B, Identification of the cystic fibrosis gene: cloning and characterization of the complementary DNA. Science 1989;245:1066-73
   PubMed Web of Science ®Google Scholar
• Bear CE, Li CH, Kartner N, Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 1992;68:809-19
   PubMed Web of Science ®Google Scholar
• Available from:. http://www.genet.sickkids.on.ca/cftr/mutations.html
   Google Scholar
• Kazazian HH Jr. Population variation of common cystic fibrosis mutations: the cystic fibrosis genetic analysis consortium.Hum Mutat. 1994;4:167-77
   Google Scholar
• Bobadilla JL, Macek M Jr, Fine JP, Farell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations–correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606
   PubMed Web of Science ®Google Scholar
• Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67(2):117-33
   PubMed Web of Science ®Google Scholar
• Wilschanski M, Zielenski J, Markiewicz D, Correlation of sweat chloride analysis with classes of CFTR gene mutations. J Pediatr 1995;127:705-10
   PubMed Web of Science ®Google Scholar
• Bartlett JR, Friedman KJ, Ling SC, Genetic modifiers of liver disease in cystic fibrosis. JAMA 2009;302:1076-83
   PubMed Web of Science ®Google Scholar
• Drumm ML, Constan MW, Schluchter MD, Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353(14):1443-53
   PubMed Web of Science ®Google Scholar
• Davies JC, Alton EWFW. Gene therapy for cystic fibrosis. Proc Am Thorac Soc 2010;7:408-14
   PubMedGoogle Scholar
• Farinha CM, Nogueira P, Mendes F, The human DNAJ homologue (Hdj-1/heat-shock protein (Hsp)40 cochaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70. Biochem J 2002;366:797-806
   PubMed Web of Science ®Google Scholar
• Pedemonte N, Lukacs GL, Du K, Small-molecule correctors of defective ΔF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 2005;115:2564-71
   PubMed Web of Science ®Google Scholar
• Varga K, Goldstein RF, Jurkuvenaite A, Enhanced cell-surface stability of rescued ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) by pharmacological chaperones. Biochem J 2008;410:555-64
   PubMed Web of Science ®Google Scholar
• Clancy JP, Spencer-Green G; for the VX-809-101 Study Group. Clinical Evaluation of VX-809, a novel investigational oral F508del-CFTR corrector, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. JCF 2010;9(Suppl 1A):73
   Google Scholar
• Van Goor F, Hadida S, Grootenhuis PDJ, Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. PNAS 2009;106:18825-30
   PubMed Web of Science ®Google Scholar
• Accurso FJ, Rowe SM, Clancy JP, Effect of VX-770 in persons with Cystic Fibrosis and the G551D-CFTR Mutation. N Engl J Med 2010;363:1991-2003
   PubMed Web of Science ®Google Scholar
• Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test 1997;1:35-9
   PubMedGoogle Scholar
• Hermann T. Aminoglycoside antibiotics:old drugs and new therapeutic approaches. Cell Mol Life Sci 2007;64:1841-52
   PubMed Web of Science ®Google Scholar
• Gorini L, Kataja E. Phenotypic repair by streptomycin of defective genmotypes in E Coli. Proc Natl Acad Sci USA 1964;51:487-93
   PubMed Web of Science ®Google Scholar
• Howard M, Frizzel RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996;2:467-9
   PubMed Web of Science ®Google Scholar
• Bedwell DM, Kaenjak A, Benos DJ, Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 1997;3:1280-4
   PubMed Web of Science ®Google Scholar
• Barton-Davis ER, Cordier L, Shoturma DI, Aminoglycoside antibiotics restore dystrophin function to skeletal muscle of mdx mice. J Clin Invest 1999;104:3745-81
   Google Scholar
• Du M, Jones JR, Lanier J, Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying CFTR-G542X transgene. J Mol Med 2002;80:595-604
   PubMed Web of Science ®Google Scholar
• Wilschanski M, Famini C, Blau H, A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 2001;163:1683-92
   PubMedGoogle Scholar
• Wilschanski M, Yahav Y, Yaakov Y, Gentamicin-induced correction of of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349:1433-41
   PubMed Web of Science ®Google Scholar
• Clancy JP, Bebok Z, Ruiz F, Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 2001;163:1683-92
   PubMed Web of Science ®Google Scholar
• Sermet-Gaudilus I, Renouil M, Fajac A, In vitro prediction of stop codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 2007;5:5
   PubMed Web of Science ®Google Scholar
• Linde L, Boelz S, Nissim- Rafinia M, Ninsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007;117:1-9
   Google Scholar
• Welch E, Barton ER, Zhuo J, PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91
   PubMed Web of Science ®Google Scholar
• Du M Liu X, Welch EM, PTC124is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci USA 2008;105:2064-9
   PubMed Web of Science ®Google Scholar
• Kerem E, Hirawat S, Armoni S, Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372:719-27
   PubMed Web of Science ®Google Scholar
• Wilschanski M, Miller LL, Shoseyov D, Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. ERJ Express 2011; published on January 13, 2011 as; doi: 10.1183/09031936.00120910
   Google Scholar
• Sermet-Gaudelus I, De Boeck K, Casimir G, Ataluren (PTC124) induces CFTR protein expression and activity in children with nonsense-mutation cystic fibrosis. Am J Respir Care Med 2010;182(10):1262-72
   PubMed Web of Science ®Google Scholar
• Finkel R, Wong B, Bushby K, Results of Phase 2b dose-ranging study of Ataluren (PTC124) in nonsense mutation Duchenne/Becker muscular dystrophy. Poster 3.51 International Congress of World Muscle Society, Kumamoto, Japan, October 2010
   Google Scholar