Peter van Mourik

58 Chapter 3 REFERENCES 1. Collins, F. S. Cystic fibrosis: molecular biology and therapeutic implications. Science 256, 774–779 (1992). 2. Riordan, J. R. CFTR function and prospects for therapy. Annu. Rev. Biochem. 77, 701–726 (2008). 3. Welsh, M. J. & Smith, A. E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73, 1251–1254 (1993). 4. Rogan, M. P., Stoltz, D. A. & Hornick, D. B. Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment. Chest 139, 1480–1490 (2011). 5. Bell, S. C., De Boeck, K. & Amaral, M. D. New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls. Pharmacol. Ther. S0163-7258 : 00122–3 (2014). 6. Liu, X. & Dawson, D. C. Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability. Biochemistry 53, 5613–5618 (2014). 7. Van Goor, F. et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc. Natl. Acad. Sci. U.S.A. 108, 18843–18848 (2011). 8. Van Goor, F. et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl. Acad. Sci. U.S.A. 106, 18825–18830 (2009). 9. Ikpa, P. T., Bijvelds, M. J. C. & de Jonge, H. R. Cystic fibrosis: Toward personalized therapies. Int. J. Biochem. Cell Biol. 52 : 192-200 (2014). 10. Rowe, S. M. & Verkman, A. S. Cystic fibrosis transmembrane regulator correctors and potentiators. Cold Spring Harb Perspect Med 3, (2013). 11. Ramsey, B. W. et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 365, 1663–1672 (2011). 12. De Boeck, K. et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J. Cyst. Fibros. 13 : 674–80 (2014). 13. Accurso, F. J. et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N. Engl. J. Med. 363, 1991–2003 (2010). 14. Davies, J. C. et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Am. J. Respir. Crit. Care Med. 187, 1219–1225 (2013). 15. Boyle, M. P. et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med (2014). Lancet Respir Med. 2 : 527–38 (2014) 16. Wainwright, C. E. et al. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. N. Engl. J. Med. 365 , 1663–1672 (2011). 17. Char, J. E. et al. A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor. PLoS ONE 9, e88564 (2014).