References
- Fanen P, Wohlhuter-Haddad A, Hinzpeter A. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. Int J Biochemistry Biol. 2014;52:94–102.
- Collaco JM, Blackman SM, McGready J, et al. Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function. J Pediatr. 2010;157:802–823.
- Amaral MD, Balch WE. Hallmarks of therapeutic management of the cystic fibrosis functional landscape. J Cyst Fibros. 2015;14(6):687–699.
- Durmowicz AG, Witzmann KA, Rosebraugh CJ, et al. Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: the ivacaftor experience. CHEST J. 2013;143(1):14–18.
- Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2014;16(1):45–56.
- Tabebordbar M, Zhu K, Cheng JKW, et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. Science [Internet]. 2015 Dec 31 [cited 2016 Jan 10]; Available from: http://www.sciencemag.org/cgi/doi/10.1126/science.aad5177.
- Nelson CE, Hakim CH, Ousterout DG, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Science [Internet]. 2015 Dec 31 [cited 2016 Jan 10]; Available from: http://www.sciencemag.org/cgi/doi/10.1126/science.aad5143.
- Schwank G, Koo B-K, Sasselli V, et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell. 2013;13(6):653–658.
- Ikpa PT, Bijvelds MJC, de Jonge HR. Cystic fibrosis: toward personalized therapies. Int J Biochem Cell Biol. 2014;52:192–200.
- Chen J, Cai Z, Li H, et al. Function of CFTR protein: ion transport. Prog Respir Res. 2006;34:38–44.
- Quinton PM. Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis. Lancet. 2008 Aug;372(9636):415–417.
- Derichs N, Jin B-J, Song Y, et al. Hyperviscous airway periciliary and mucous liquid layers in cystic fibrosis measured by confocal fluorescence photobleaching. FASEB J. 2011;25:2325–2332.
- Rowe SM, Accurso F, Clancy JP. Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trials. Proc Am Thorac Soc. 2007;4:387–398.
- McKone EF, Velentgas P, Swenson AJ, et al. Association of sweat chloride concentration at time of diagnosis and CFTR genotype with mortality and cystic fibrosis phenotype. J Cyst Fibros. 2015;14(5):580–586.
- Dodge JA, Lewis PA, Stanton M, et al. Cystic fibrosis mortality and survival in the UK: 1947-2003. Eur Respir J. 2007;29(3):522–526.
- CFTR2 TCaFToC [Internet]. 2015 [cited 2016 Feb 2]. Available from: http://www.cftr2.org/
- Rowntree RK, Harris A. The phenotypic consequences of CFTR mutations. Ann Hum Genet. 2003;67:471–485.
- Du K, Sharma M, Lukacs GL. The ΔF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nat Struct Mol Biol. 2005;12:17–25.
- Bronsveld I, Mekus F, Bijman J, et al. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings. J Clin Invest. 2001;108:1705–1715.
- Howell LD, Borchardt R, Cohn JA. ATP hydrolysis by a CFTR domain: pharmacology and effects of G551D mutation. Biochem Biophys Res Commun. 2000;271(2):518–525.
- Denning GM, Ostedgaard LS, Welsh MJ. Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia. J Cell Biol. 1992;118:551–559.
- Lukacs GL, Chang XB, Bear C, et al. The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J Biol Chem. 1990;268:21592–21598.
- Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med. 1996;2:467–469.
- Zhang L, Button B, Gabriel SE, et al. CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium. PLoS Biol. 2009;7:e1000155.
- Sermet-Gaudelus I, Renouil M, Fajac A, et al. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med. 2007;5:5.
- Clancy JP, Rowe SM, Bebok Z, et al. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am J Respir Cell Mol Biol. 2007;37:57–66.
- Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447:87–91.
- Wilschanski M, Miller LL, Shoseyov D, et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J. 2011;38:59–69.
- Kerem E, Konstan MW, De Boeck K, et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014;2:539–547.
- Gonzalez-Hilarion S, Beghyn T, Jia J, et al. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis. 2012;7:58–58.
- Van Goor F, Hadida S, Grootenhuis PDJ, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A. 2009;106:18825–18830.
- Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365:1663–1672.
- Davies JC, Wainwright CE, Canny GJ, 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. 2013;187:1219–1225.
- Moss RB, Flume PA, Elborn JS, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med. 2015;3(7):524–533.
- McKone EF, Borowitz D, Drevinek P, et al. Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST). Lancet Respir Med. 2014;2:902–910.
- Yeh H-I, Yeh J-T, Hwang T-C. Modulation of CFTR gating by permeant ions. J Gen Physiol. 2015;145:47–60.
- Bompadre SG, Li M, Hwang T-C. Mechanism of G551D-CFTR (cystic fibrosis transmembrane conductance regulator) potentiation by a high affinity ATP analog. J Biol Chem. 2008;283:5364–5369.
- Flume PA, Liou TG, Borowitz DS, et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. CHEST J. 2012;142:718–724.
- Pedemonte N, Lukacs GL, Du K, et al. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest. 2005;115:2564–2571.
- Van Goor F, Hadida S, Grootenhuis PD, 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. 2011;108:18843–18848.
- Ren HY, Grove DE, De La Rosa O, et al. VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1. Mol Biol Cell. 2013;24(19):3016–3024.
- Clancy JP, Rowe SM, Accurso FJ, 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. 2012;67:12–18.
- Donaldson S, Pilewski J, Griese M, et al. WS7.3 VX-661, an investigational CFTR corrector, in combination with ivacaftor, a CFTR potentiator, in patients with CF and homozygous for the F508Del-CFTR mutation: interim analysis. J Cyst Fibros. 2013;12(Supplement 1):S14.
- Vertex [Internet]. 2014 [cited 2016 Feb 2]. Available from: http://investors.vrtx.com/releasedetail.cfm?ReleaseID=844677
- Boyle MP, Bell SC, Konstan MW, 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;2:527–538.
- Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor–ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. New England J Med. 2015;373(3):220–231.
- Rehman, et al. Lumacaftor–ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. New England J Med. 2015;373(18):1783–1784.
- Favia M, Mancini MT, Bezzerri V, et al. Trimethylangelicin promotes the functional rescue of mutant F508del CFTR protein in cystic fibrosis airway cells. Am J Physiol Lung Cell Mol Physiol. 2014;307:L48–61.
- Mills AD, Yoo C, Butler JD, et al. Design and synthesis of a hybrid potentiator-corrector agonist of the cystic fibrosis mutant protein DeltaF508-CFTR. Bioorg Med Chem Lett. 2010;20:87–91.
- Crystal RG, McElvaney NG, Rosenfeld MA, et al. Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nat Genet. 1994;8:42–51.
- Harvey BG, Leopold PL, Hackett NR, et al. Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus. J Clin Invest. 1999;104:1245–1255.
- Griesenbach U, Alton EW. Progress in gene and cell therapy for cystic fibrosis lung disease. Curr Pharm Des. 2012;18:642–662.
- Moss RB, Milla C, Colombo J, et al. Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial. Hum Gene Ther. 2007;18:726–732.
- Hyde SC, Pringle IA, Abdullah S, et al. CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression. Nat Biotechnol. 2008;26:549–551.
- Alton EWFW, Boyd AC, Porteous DJ, et al. A Phase I/IIa safety and efficacy study of nebulized liposome-mediated gene therapy for cystic fibrosis supports a multidose trial. Am J Respir Crit Care Med. 2015;192(11):1389–1392.
- Rocchi L, Braz C, Cattani S, et al. Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy. Hum Gene Ther. 2010;21:1077–1092.
- Ishino Y, Shinagawa H, Makino K, et al. Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product. J Bacteriol. 1987;169(12):5429–5433.
- Barrangou R, Fremaux C, Deveau H, et al. CRISPR provides acquired resistance against viruses in prokaryotes. Science. 2007;315(5819):1709–1712.
- Garneau JE, Dupuis M-È, Villion M, et al. The CRISPR/Cas bacterial immune system cleaves bacteriophage and plasmid DNA. Nature. 2010;468(7320):67–71.
- Deltcheva E, Chylinski K, Sharma CM, et al. CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III. Nature. 2011;471(7340):602–607.
- Rath D, Amlinger L, Rath A, et al. The CRISPR-Cas immune system: biology, mechanisms and applications. Biochimie. 2015;117:119–128.
- Nishimasu H, Ran FA, Hsu PD, et al. Crystal structure of Cas9 in complex with guide RNA and target DNA. Cell. 2014;156(5):935–949.
- Ran FA, Hsu PD, Wright J, et al. Genome engineering using the CRISPR-Cas9 system. Nat Protoc. 2013;8(11):2281–2308.
- Jackson SP, Khanna K. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet. 2001;27(3):247–254.
- Mali P, Yang L, Esvelt KM, et al. RNA-guided human genome engineering via Cas9. Science. 2013;339(6121):823–826.
- Heyer W-D, Ehmsen KT, Liu J. Regulation of homologous recombination in eukaryotes. Annu Rev Genet. 2010;44(1):113–139.
- Sander JD, Joung JK. CRISPR-Cas systems for editing, regulating and targeting genomes. Nat Biotechnol. 2014 Mar 2;32(4):347–355.
- Van Erp PB, Bloomer G, Wilkinson R, et al. The history and market impact of CRISPR RNA-guided nucleases. Curr Opin Virol. 2015;12:85–90.
- Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems. Science. 2013;339(6121):819–823.
- Ran FA, Hsu PD, Lin C-Y, et al. Double Nicking by RNA-Guided CRISPR Cas9 for enhanced genome editing specificity. Cell. 2013;154(6):1380–1389.
- Shen B, Zhang W, Zhang J, et al. Efficient genome modification by CRISPR-Cas9 nickase with minimal off-target effects. Nat Methods. 2014;11(4):399–402.
- Yui S, Nakamura T, Sato T, et al. Functional engraftment of colon epithelium expanded in vitro from a single adult Lgr5+ stem cell. Nat Med. 2012;18(4):618–623.
- Crane AM, Kramer P, Bui JH, et al. Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells. Stem Cell Reports. 2015;4(4):569–577.
- Firth AL, Menon T, Parker GS, et al. Functional gene correction for cystic fibrosis in lung epithelial cells generated from patient iPSCs. Cell Rep. 2015;12(9):1385–1390.
- Lisa Li H, Nakano T, Hotta A. Genetic correction using engineered nucleases for gene therapy applications. Dev Growth Differ. 2014;56(1):63–77.
- Hsu PD, Scott DA, Weinstein JA, et al. DNA targeting specificity of RNA-guided Cas9 nucleases. Nat Biotechnol. 2013;31(9):827–832.
- Cho SW, Kim S, Kim Y, et al. Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases. Genome Res. 2014 Jan 1;24(1):132–141.
- Fu Y, Sander JD, Reyon D, et al. Improving CRISPR-Cas nuclease specificity using truncated guide RNAs. Nat Biotechnol. 2014;32(3):279–284.
- Wang X, Wang Y, Wu X, et al. Unbiased detection of off-target cleavage by CRISPR-Cas9 and TALENs using integrase-defective lentiviral vectors. Nat Biotechnol. 2015;33(2):175–178.
- Parikh BA, Beckman DL, Patel SJ, et al. Detailed phenotypic and molecular analyses of genetically modified mice generated by CRISPR-Cas9-mediated editing. Plos One. 2014;10(1):e0116484.
- Cox DBT, Platt RJ, Zhang F. Therapeutic genome editing: prospects and challenges. Nat Med. 2015;21(2):121–131.
- Bassett AR, Liu J-L. CRISPR/Cas9 and genome editing in drosophila. J Genet Genomics. 2014;41(1):7–19.
- Wu X, Scott DA, Kriz AJ, et al. Genome-wide binding of the CRISPR endonuclease Cas9 in mammalian cells. Nat Biotechnol. 2014;32(7):670–676.
- Li L, He Z-Y, Wei X-W, et al. Challenges in CRISPR/CAS9 delivery: potential roles of nonviral vectors. Hum Gene Ther. 2015;26(7):452–462.
- Kumar M, Keller B, Makalou N, et al. Systematic determination of the packaging limit of lentiviral vectors. Hum Gene Ther. 2001;12(15):1893–1905.
- Wu Z, Yang H, Colosi P. Effect of genome size on AAV vector packaging. Mol Ther. 2010;18(1):80–86.
- Kajstura J, Rota M, Hall SR, et al. Evidence for human lung stem cells. New England J Med. 2011;364(19):1795–1806.
- Ding Q, Strong A, Patel KM, et al. Permanent alteration of PCSK9 with in vivo CRISPR-Cas9 genome editing. Circ Res. 2014;115:488–492.
- Barrangou R, May AP. Unraveling the potential of CRISPR-Cas9 for gene therapy. Expert Opin Biol Ther. 2015;15(3):311–314.