Peter van Mourik

16 Chapter 1 17. Musch, S. et al. Poster Session Abstracts. Pediatr. Pulmonol. 51, S194–S485 (2016). 18. Kolodziej, A. Fixing ∆ F508-CFTR : Bringing New Correctors into the Fold. (2017). Available at: http://www.flatleydiscoverylab.com/wp-content/uploads/2017/07/ Fixing-ΔF508-CFTR-–-Bringing-New-Correctors-into-the-Fold.pdf. (Accessed: 23rd January 2019) 19. Dekkers, J. F. et al. Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids. Eur. Respir. J. 48, 451–8 (2016). 20. Vijftigschild, L. A. W. et al. β2-Adrenergic receptor agonists activate CFTR in intestinal organoids and subjects with cystic fibrosis. Eur. Respir. J. 48, 768–79 (2016). 21. Zomer-van Ommen, D. D. et al. Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids. J. Cyst. Fibros. 15, 158–62 (2016). 22. PTC Therapeutics Inc. PTC Therapeutics Announces Results from Pivotal Phase 3 Clinical Trial of Ataluren in Patients Living with Nonsense Mutation Cystic Fibrosis. (2017). Available at: http://ir.ptcbio.com/news-releases/ news-release-details/ptc-therapeutics-announces-results-pivotal-phase-3- clinical?ReleaseID=1015471. (Accessed: 28th March 2018) 23. FDA. FDA expands approved use of Kalydeco to treat additional mutations of cystic fibrosis. (2017). Available at: https://www.fda.gov/NewsEvents/Newsroom/ PressAnnouncements/ucm559212.htm. (Accessed: 28th March 2018) 24. Wang, X., Koulov, A. V, Kellner, W. A., Riordan, J. R. & Balch, W. E. Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking. Traffic 9, 1878–93 (2008). 25. Pedemonte, N., Tomati, V., Sondo, E. & Galietta, L. J. V. Influence of cell background on pharmacological rescue of mutant CFTR. Am. J. Physiol. Cell Physiol. 298, C866-74 (2010). 26. Rowe, S. M. et al. DeltaF508 CFTR processing correction and activity in polarized airway and non-airway cell monolayers. Pulm. Pharmacol. Ther. 23, 268–78 (2010). 27. Hirtz, S. et al. CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology 127, 1085– 1095 (2004). 28. Sousa, M. et al. Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis. PLoS One 7, e47708 (2012). 29. Graeber, S. Y. et al. Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor. Am. J. Respir. Crit. Care Med. 192, 1252–5 (2015). 30. Graeber, S. Y. et al. Effects of Lumacaftor-Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 197, 1433–1442 (2018).

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