A functional CFTR assay using primary cystic fibrosis intestinal organoids
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Riordan, J.R. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066–1073 (1989).
Rommens, J.M. et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059–1065 (1989).
Kerem, B. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073–1080 (1989).
Cheng, S.H. et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63, 827–834 (1990).
Clancy, J.P. & Jain, M. Personalized medicine in cystic fibrosis: dawning of a new era. Am. J. Respir. Crit. Care Med. 186, 593–597 (2012).
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).
Van Goor, F. et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl. Acad. Sci. USA 106, 18825–18830 (2009).
Rabeh, W.M. et al. Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function. Cell 148, 150–163 (2012).
Welch, E.M. et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447, 87–91 (2007).
Sermet-Gaudelus, I. 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. 182, 1262–1272 (2010).
Clancy, J.P. et al. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67, 12–18 (2012).
Flume, P.A. et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 142, 718–724 (2012).
Sato, T. et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature 459, 262–265 (2009).
Sato, T. et al. Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett's epithelium. Gastroenterology 141, 1762–1772 (2011).
Sato, T. et al. Paneth cells constitute the niche for Lgr5 stem cells in intestinal crypts. Nature 469, 415–418 (2011).
Field, M. Intestinal ion transport and the pathophysiology of diarrhea. J. Clin. Invest. 111, 931–943 (2003).
Venkatasubramanian, J., Ao, M. & Rao, M.C. Ion transport in the small intestine. Curr. Opin. Gastroenterol. 26, 123–128 (2010).
Currid, A., Ortega, B. & Valverde, M.A. Chloride secretion in a morphologically differentiated human colonic cell line that expresses the epithelial Na+ channel. J. Physiol. (Lond.) 555, 241–250 (2004).
Cunningham, S.A., Worrell, R.T., Benos, D.J. & Frizzell, R.A. cAMP-stimulated ion currents in Xenopus oocytes expressing CFTR cRNA. Am. J. Physiol. 262, C783–C788 (1992).
Thiagarajah, J.R., Song, Y., Haggie, P.M. & Verkman, A.S. A small molecule CFTR inhibitor produces cystic fibrosis-like submucosal gland fluid secretions in normal airways. FASEB J. 18, 875–877 (2004).
Muanprasat, C. et al. Discovery of glycine hydrazide pore-occluding CFTR inhibitors: mechanism, structure-activity analysis, and in vivo efficacy. J. Gen. Physiol. 124, 125–137 (2004).
Ratcliff, R. et al. Production of a severe cystic fibrosis mutation in mice by gene targeting. Nat. Genet. 4, 35–41 (1993).
French, P.J. et al. A ΔF508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. J. Clin. Invest. 98, 1304–1312 (1996).
Wilke, M. et al. Mouse models of cystic fibrosis: phenotypic analysis and research applications. J. Cyst. Fibros. 10 (suppl. 2), S152–S171 (2011).
Denning, G.M. et al. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358, 761–764 (1992).
Loo, T.W., Bartlett, M.C. & Clarke, D.M. Rescue of ΔF508 and other misprocessed CFTR mutants by a novel quinazoline compound. Mol. Pharm. 2, 407–413 (2005).
Pedemonte, N. et al. Small-molecule correctors of defective ΔF508-CFTR cellular processing identified by high-throughput screening. J. Clin. Invest. 115, 2564–2571 (2005).
Strandvik, B. et al. Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations. Genet. Test. 5, 235–242 (2001).
Kerem, B.S. et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc. Natl. Acad. Sci. USA 87, 8447–8451 (1990).
Hermans, C.J., Veeze, H.J., Drexhage, V.R., Halley, D.J. & van den Ouweland, A.M. Identification of the L927P and ΔL1260 mutations in the CFTR gene. Hum. Mol. Genet. 3, 1199–1200 (1994).
De Jonge, H.R. et al. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. J. Cyst. Fibros. 3 (suppl. 2), 159–163 (2004).
De Boeck, K. et al. New clinical diagnostic procedures for cystic fibrosis in Europe. J. Cyst. Fibros. 10 (suppl. 2), S53–S66 (2011).
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. USA 108, 18843–18848 (2011).
Liu, J., Walker, N.M., Cook, M.T., Ootani, A. & Clarke, L.L. Functional Cftr in crypt epithelium of organotypic enteroid cultures from murine small intestine. Am. J. Physiol. Cell Physiol. 302, C1492–C1503 (2012).
Li, H., Yang, W., Mendes, F., Amaral, M.D. & Sheppard, D.N. Impact of the cystic fibrosis mutation F508del-CFTR on renal cyst formation and growth. Am. J. Physiol. Renal Physiol. 303, F1176–F1186 (2012).
Gee, H.Y., Noh, S.H., Tang, B.L., Kim, K.H. & Lee, M.G. Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway. Cell 146, 746–760 (2011).
Luo, Y., McDonald, K. & Hanrahan, J.W. Trafficking of immature ΔF508-CFTR to the plasma membrane and its detection by biotinylation. Biochem. J. 419, 211–219 (2009).
Geborek, A. & Hjelte, L. Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations. J. Cyst. Fibros. 10, 187–192 (2011).
Sullivan, L.P., Wallace, D.P. & Grantham, J.J. Coupling of cell volume and membrane potential changes to fluid secretion in a model of renal cysts. Kidney Int. 45, 1369–1380 (1994).
Smith, J.J. & Welsh, M.J. Fluid and electrolyte transport by cultured human airway epithelia. J. Clin. Invest. 91, 1590–1597 (1993).
Roth, E.K. et al. The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients. PLoS ONE 6, e24445 (2011).
Wong, A.P. et al. Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein. Nat. Biotechnol. 30, 876–882 (2012).
Thiagarajah, J.R. & Verkman, A.S. CFTR inhibitors for treating diarrheal disease. Clin. Pharmacol. Ther. 92, 287–290 (2012).
de Lau, W. et al. Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling. Nature 476, 293–297 (2011).
Korinek, V. et al. Constitutive transcriptional activation by a β-catenin–Tcf complex in APC−/− colon carcinoma. Science 275, 1784–1787 (1997).