Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

Cheng, S. H., Gregory, R. J., Marshall, J., Paul, S., Souza, D. W., White, G. A., O’Riordan, C. R., & Smith, A. E. (1990) · Cell · doi:10.1016/0092-8674(90)90148-8 · Cited by 1,792

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

Denning, G. M., Anderson, M. P., Amara, J. F., Marshall, J., Smith, A. E., & Welsh, M. J. (1992) · Nature · doi:10.1038/358761a0 · Cited by 1,236

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

Goor, F. V., Hadidaꝉ, S., Grootenhuis, P. D. J., Burton, B., Cao, D., Neuberger, T., Turnbull, A., Singh, A. K., Joubran, J., Hazlewood, A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0904709106 · Cited by 1,225

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Cutting, G. R., Durie, P. R., LeGrys, V. A., Massie, J., Parad, R. B., et al. (2008) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2008.05.005 · Cited by 1,093

Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening

Bobadilla, J. L., Macek, M., Fine, J. P., & Farrell, P. M. (2002) · Human Mutation · doi:10.1002/humu.10041 · Cited by 1,032

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D- CFTR Mutation

Accurso, F. J., Rowe, S. M., Clancy, J. P., Boyle, M., Dunitz, J., Durie, P. R., Sagel, S. D., Hornick, D. B., Konstan, M. W., Donaldson, S. H., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0909825 · Cited by 803

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

Dalemans, W., Barbry, P., Champigny, G., Jallat, S., Jallat, S., Dott, K., Dreyer, D., Crystal, R. G., Pavirani, A., Lecocq, J.-P., et al. (1991) · Nature · doi:10.1038/354526a0 · Cited by 707

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Castellani, C., Cuppens, H., Maçek, M., Cassiman, J. J., Kerem, E., Durie, P. R., Tullis, E. D., Assael, B. M., Bombieri, C., Brown, A., et al. (2008) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2008.03.009 · Cited by 624

Small-molecule correctors of defective F508-CFTR cellular processing identified by high-throughput screening

Pedemonte, N. (2005) · Journal of Clinical Investigation · doi:10.1172/jci24898 · Cited by 551

Applications of Fluorine in Medicinal Chemistry

Gillis, E. P., Eastman, K. J., Hill, M. D., Donnelly, D. J., & Meanwell, N. A. (2015) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.5b00258 · Cited by 3,692

Fluorine and Fluorinated Motifs in the Design and Application of Bioisosteres for Drug Design

Meanwell, N. A. (2018) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.7b01788 · Cited by 2,734

Cystic fibrosis

Elborn, J. S. (2016) · The Lancet · doi:10.1016/s0140-6736(16)00576-6 · Cited by 1,805

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

Wainwright, C. E., Elborn, J. S., Ramsey, B. W., Marigowda, G., Huang, X., Cipolli, M., Colombo, C., Davies, J. C., De Boeck, K., Flume, P. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1409547 · Cited by 1,622

The future of cystic fibrosis care: a global perspective

Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S. L., Davies, J. C., Burgel, P., Tullis, E., Castaños, C., Castellani, C., et al. (2019) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(19)30337-6 · Cited by 1,081

Organoids

Zhao, Z., Chen, X., Dowbaj, A. M., Sljukic, A., Bratlie, K., Lin, L., Fong, E. L. S., Balachander, G. M., Chen, Z., Soragni, A., et al. (2022) · Nature Reviews Methods Primers · doi:10.1038/s43586-022-00174-y · Cited by 1,082

A functional CFTR assay using primary cystic fibrosis intestinal organoids

Dekkers, J. F., Wiegerinck, C. L., de Jonge, H. R., Bronsveld, I., Janssens, H. M., de Winter-de Groot, K. M., Brandsma, A. M., de Jong, N. W. M., Bijvelds, M. J. C., Scholte, B. J., et al. (2013) · Nature Medicine · doi:10.1038/nm.3201 · Cited by 999

Cystic fibrosis genetics: from molecular understanding to clinical application

Cutting, G. R. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3849 · Cited by 1,015

Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del

Taylor-Cousar, J. L., Munck, A., McKone, E. F., van der Ent, C. K., Moeller, A., Simard, C., Wang, L. T., Ingenito, E. P., McKee, C., Lu, Y., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1709846 · Cited by 794

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

Keating, D., Marigowda, G., Burr, L., Daines, C., Mall, M. A., McKone, E. F., Ramsey, B. W., Rowe, S. M., Sass, L. A., Tullis, E., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1807120 · Cited by 726

From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

Veit, G., Avramescu, R. G., Chiang, A., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., et al. (2016) · Molecular Biology of the Cell · doi:10.1091/mbc.e14-04-0935 · Cited by 613

Cystic fibrosis

Ratjen, F. A., Bell, S. C., Rowe, S. M., Goss, C. H., Quittner, A. L., & Bush, A. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.10 · Cited by 575

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Lopes‐Pacheco, M. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.01662 · Cited by 605

Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis

Rowe, S. M., Daines, C., Ringshausen, F. C., Kerem, E., Wilson, J., Tullis, E., Nair, N., Simard, C., Han, L., Ingenito, E. P., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1709847 · Cited by 522

Complex interplay between autophagy and oxidative stress in the development of pulmonary disease

Ornatowski, W., Lü, Q., Yegambaram, M., Flores, A. G., Zemskov, E. A., Maltepe, E., Fineman, J. R., Wang, T., & Black, S. M. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101679 · Cited by 484

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

Boyle, M., Bell, S. C., Konstan, M. W., McColley, S. A., Rowe, S. M., Rietschel, E., Huang, X., Waltz, D. A., Patel, N. R., & Rodman, D. M. (2014) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(14)70132-8 · Cited by 467

Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein

Wong, A. P., Bear, C. E., Chin, S., Pasceri, P., Thompson, T., Huan, L., Ratjen, F. A., Ellis, J., & Rossant, J. (2012) · Nature Biotechnology · doi:10.1038/nbt.2328 · Cited by 422

Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation

Sampaziotis, F., de Brito, M. C., Madrigal, P., Bertero, A., Saeb‐Parsy, K., Soares, F. A. C., Schrumpf, E., Melum, E., Karlsen, T. H., Bradley, J. A., et al. (2015) · Nature Biotechnology · doi:10.1038/nbt.3275 · Cited by 398

Targeting the Intracellular Environment in Cystic Fibrosis: Restoring Autophagy as a Novel Strategy to Circumvent the CFTR Defect

Villella, V. R., Esposito, S., Bruscia, E. M., Maiuri, M. C., Raia, V., Kroemer, G., & Maiuri, L. (2013) · Frontiers in Pharmacology · doi:10.3389/fphar.2013.00001 · Cited by 390

Mechanism-based corrector combination restores ΔF508-CFTR folding and function

Okiyoneda, T., Veit, G., Dekkers, J. F., Bagdany, M., Soya, N., Xu, H., Roldan, A., Verkman, A. S., Kurth, M., Simon, A., et al. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1253 · Cited by 378

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

Lukacs, G. L., & Verkman, A. S. (2012) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.10.003 · Cited by 375

Phenotypic drug discovery: recent successes, lessons learned and new directions

Vincent, F., Nueda, A., Lee, J. L. C., Schenone, M., Prunotto, M., & Mercola, M. A. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00472-w · Cited by 397

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357

Cleaning Up: ER-Associated Degradation to the Rescue

Brodsky, J. L. (2012) · Cell · doi:10.1016/j.cell.2012.11.012 · Cited by 341

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

Goor, F. V., Yu, H., Burton, B., & Hoffman, B. J. (2013) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2013.06.008 · Cited by 341

VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

Davies, J. C., Moskowitz, S. M., Brown, C., Horsley, A., Mall, M. A., McKone, E. F., Plant, B. J., Prais, D., Ramsey, B. W., Taylor-Cousar, J. L., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1807119 · Cited by 331

α1-Antitrypsin deficiency

Greene, C. M., Marciniak, S. J., Teckman, J. H., Ferrarotti, I., Brantly, M., Lomas, D. A., Stoller, J. K., & McElvaney, N. G. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.51 · Cited by 332

Directed differentiation of cholangiocytes from human pluripotent stem cells

Ogawa, M., Ogawa, S., Bear, C. E., Ahmadi, S., Chin, S., Li, B., Grompe, M., Keller, G. M., Kamath, B. M., & Ghanekar, A. (2015) · Nature Biotechnology · doi:10.1038/nbt.3294 · Cited by 318

Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis

Cholon, D. M., Quinney, N. L., Fulcher, M. L., Esther, C. R., Das, J., Dokholyan, N. V., Randell, S. H., Boucher, R. C., & Gentzsch, M. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008680 · Cited by 320

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner

Eckford, P. D. W., Li, C., Ramjeesingh, M., & Bear, C. E. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.393637 · Cited by 320

Small-Molecule Modulation of Protein Homeostasis

Burslem, G. M., & Crews, C. M. (2017) · Chemical Reviews · doi:10.1021/acs.chemrev.7b00077 · Cited by 298

Efficacy and safety of lumacaftor and ivacaftor in patients aged 6–11 years with cystic fibrosis homozygous for F508del-CFTR : a randomised, placebo-controlled phase 3 trial

Ratjen, F. A., Hug, C., Marigowda, G., Tian, S., Huang, X., Stanojevic, S., Milla, C. E., Robinson, P. D., Waltz, D. A., Davies, J. C., et al. (2017) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(17)30215-1 · Cited by 297

CFTR modulator theratyping: Current status, gaps and future directions

Clancy, J. P., Cotton, C. U., Donaldson, S. H., Solomon, G. M., VanDevanter, D. R., Boyle, M., Gentzsch, M., Nick, J. A., Illek, B., Wallenburg, J., et al. (2018) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2018.05.004 · Cited by 295

Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study

Konstan, M. W., McKone, E. F., Moss, R. B., Marigowda, G., Tian, S., Waltz, D., Huang, X., Lubarsky, B., Rubin, J., Millar, S. J., et al. (2017) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(16)30427-1 · Cited by 259

Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression

Veit, G., Avramescu, R. G., Perdomo, D., Phuan, P.-W., Bagdany, M., Apaja, P. M., Borot, F., Szollosi, D., Wu, Y.-S., Finkbeiner, W. E., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008889 · Cited by 287

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

Ren, H. Y., Grove, D. E., Rosa, O. D. L., Houck, S. A., Sopha, P., Goor, F. V., Hoffman, B. J., & Cyr, D. (2013) · Molecular Biology of the Cell · doi:10.1091/mbc.e13-05-0240 · Cited by 281

Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function

Rabeh, W. M., Bossard, F., Xu, H., Okiyoneda, T., Bagdany, M., Mulvihill, C. M., Du, K., di Bernardo, S., Liu, Y., Konermann, L., et al. (2012) · Cell · doi:10.1016/j.cell.2011.11.024 · Cited by 280

Lipid Nanoparticle-Delivered Chemically Modified mRNA Restores Chloride Secretion in Cystic Fibrosis

Robinson, E., MacDonald, K. D., Slaughter, K., McKinney, M., Patel, S., Sun, C., & Sahay, G. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.05.014 · Cited by 272

Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences

Mendoza, J. L., Schmidt, A., Li, Q., Nuvaga, E., Barrett, T., Bridges, R. J., Feranchak, A. P., Brautigam, C. A., & Thomas, P. J. (2012) · Cell · doi:10.1016/j.cell.2011.11.023 · Cited by 261

CFTR: cystic fibrosis and beyond

Mall, M. A., & Hartl, D. (2014) · European Respiratory Journal · doi:10.1183/09031936.00228013 · Cited by 266

Structural identification of a hotspot on CFTR for potentiation

Liu, F., Zhang, Z., Levit, A., Levring, J., Touhara, K. K., Shoichet, B. K., & Chen, J. (2019) · Science · doi:10.1126/science.aaw7611 · Cited by 260

Cystic fibrosis: current therapeutic targets and future approaches

Rafeeq, M. M., & Murad, H. A. S. (2017) · Journal of Translational Medicine · doi:10.1186/s12967-017-1193-9 · Cited by 287

Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis

Marinko, J. T., Huang, H., Penn, W. D., Capra, J. A., Schlebach, J. P., & Sanders, C. R. (2019) · Chemical Reviews · doi:10.1021/acs.chemrev.8b00532 · Cited by 257

Structure, Gating, and Regulation of the CFTR Anion Channel

Csanády, L., Vergani, P., & Gadsby, D. C. (2019) · Physiological Reviews · doi:10.1152/physrev.00007.2018 · Cited by 262

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect

Boyle, M., & Boeck, K. D. (2013) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(12)70057-7 · Cited by 265

Cystic Fibrosis: Emergence of Highly Effective Targeted Therapeutics and Potential Clinical Implications

Mall, M. A., Mayer-Hamblett, N., & Rowe, S. M. (2019) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201910-1943so · Cited by 234

Do you know the sex of your cells?

Shah, K., McCormack, C. E., & Bradbury, N. A. (2014) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00281.2013 · Cited by 219

Cystic fibrosis

Mall, M. A., Burgel, P., Castellani, C., Davies, J. C., Salathe, M. A., & Taylor‐Cousar, J. L. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00538-6 · Cited by 236

Developing predictive assays: The phenotypic screening “rule of 3”

Vincent, F., Loria, P. M., Pregel, M. J., Stanton, R. V., Kitching, L., Nocka, K. H., Doyonnas, R., Steppan, C. M., Gilbert, A. M., Schroeter, T., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aab1201 · Cited by 204

Mechanism of CFTR correction by type I folding correctors

Fiedorczuk, K., & Chen, J. (2022) · Cell · doi:10.1016/j.cell.2021.12.009 · Cited by 208

In vivo editing of lung stem cells for durable gene correction in mice

Sun, Y., Chatterjee, S., Lian, X., Traylor, Z., Sattiraju, S. R., Xiao, Y., Dilliard, S. A., Sung, Y., Kim, M., Lee, S. M., et al. (2024) · Science · doi:10.1126/science.adk9428 · Cited by 190

CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis

Lopes‐Pacheco, M. (2016) · Frontiers in Pharmacology · doi:10.3389/fphar.2016.00275 · Cited by 205

Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators

Fiedorczuk, K., & Chen, J. (2022) · Science · doi:10.1126/science.ade2216 · Cited by 176

CFTR modulator therapy: Transforming the landscape of clinical care in cystic fibrosis

Taylor-Cousar, J. L., Robinson, P. D., Shteinberg, M., & Downey, D. G. (2023) · The Lancet · doi:10.1016/s0140-6736(23)01609-4 · Cited by 173

New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls

Bell, S. C., Boeck, K. D., & Amaral, M. D. (2014) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2014.06.005 · Cited by 182

Lumacaftor/Ivacaftor in Patients Aged 6–11 Years with Cystic Fibrosis and Homozygous for F508del-CFTR

Milla, C. E., Ratjen, F. A., Marigowda, G., Liu, F., Waltz, D. A., & Rosenfeld, M. (2017) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201608-1754oc · Cited by 176

Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: a pooled analysis

Elborn, J. S., Ramsey, B. W., Boyle, M., Konstan, M. W., Huang, X., Marigowda, G., Waltz, D. A., & Wainwright, C. E. (2016) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(16)30121-7 · Cited by 166

Biophysical and Mechanistic Models for Disease-Causing Protein Variants

Stein, A., Fowler, D. M., Hartmann‐Petersen, R., & Lindorff‐Larsen, K. (2019) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2019.01.003 · Cited by 167

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

Farinha, C. M., King-Underwood, J., Sousa, M., Correia, A. R., Henriques, B. J., Roxo‐Rosa, M., Paula, A. C. D., Williams, J. P., Hirst, S., Gomes, C. M., et al. (2013) · Chemistry & Biology · doi:10.1016/j.chembiol.2013.06.004 · Cited by 164

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Pranke, I. M., Hatton, A., Simonin, J., Jais, J. P., Le Pimpec-Barthes, F., Carsin, A., Bonnette, P., Fayon, M., Stremler-Le Bel, N., Grenet, D., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-07504-1 · Cited by 161

Air−Liquid Interface Cultures of the Healthy and Diseased Human Respiratory Tract: Promises, Challenges, and Future Directions

Baldassi, D., Gabold, B., & Merkel, O. M. (2021) · Advanced NanoBiomed Research · doi:10.1002/anbr.202000111 · Cited by 175

Glucose-induced electrical activities and insulin secretion in pancreatic islet β-cells are modulated by CFTR

Guo, J. H., Chen, H., Ruan, Y. C., Zhang, X. L., Zhang, X. H., Fok, K. L., Tsang, L. L., Yu, M. K., Huang, W. Q., Sun, X., et al. (2014) · Nature Communications · doi:10.1038/ncomms5420 · Cited by 157

International consensus statements on early chronic Pancreatitis. Recommendations from the working group for the international consensus guidelines for chronic pancreatitis in collaboration with The International Association of Pancreatology, American Pancreatic Association, Japan Pancreas Society, PancreasFest Working Group and European Pancreatic Club

Whitcomb, D. C., Shimosegawa, T., Chari, S. T., Forsmark, C. E., Frulloni, L., Garg, P. K., Hegyi, P., Hirooka, Y., Irisawa, A., Ishikawa, T., et al. (2018) · Pancreatology · doi:10.1016/j.pan.2018.05.008 · Cited by 162

Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor

Xue, X., Mutyam, V., Tang, L., Biswas, S., Du, M., Jackson, L. A., Dai, Y., Белахов, В. В., Shalev, M., Chen, F., et al. (2013) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2013-0282oc · Cited by 161

New and emerging targeted therapies for cystic fibrosis

Quon, B. S., & Rowe, S. M. (2016) · BMJ · doi:10.1136/bmj.i859 · Cited by 159

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

Stefano, D. D., Villella, V. R., Esposito, S., Tosco, A., Sepe, A. O., Gregorio, F. D., Salvadori, L., Grassia, R., Leone, C. A., Rosa, G. D., et al. (2014) · Autophagy · doi:10.4161/15548627.2014.973737 · Cited by 149

Targeting ion channels in cystic fibrosis

Mall, M. A., & Galietta, L. J. V. (2015) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2015.06.002 · Cited by 153

Chaperoning G Protein-Coupled Receptors: From Cell Biology to Therapeutics

Tao, Y., & Conn, P. M. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1121 · Cited by 149

Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells

Valley, H. C., Bukis, K., Bell, A., Cheng, Y., Wong, E., Jordan, N. J., Allaire, N., Sivachenko, A., Liang, F., Bihler, H. J., et al. (2018) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2018.12.001 · Cited by 141

Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein

He, L., Kota, P. B., Aleksandrov, A. A., Cui, L., Jensen, T., Dokholyan, N. V., & Riordan, J. R. (2012) · The FASEB Journal · doi:10.1096/fj.12-216119 · Cited by 139

Chaperoning Endoplasmic Reticulum–Associated Degradation (ERAD) and Protein Conformational DiseasesPreprint

Needham, P. G., Guerriero, C. J., & Brodsky, J. L. (2019) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a033928 · Cited by 141

Digital droplet PCR on disk

Schuler, F., Trotter, M. J., Geltman, M., Schwemmer, F., Wadle, S., Domínguez‐Garrido, E., López, M., Acedo, C. C., Santibáñez, P., von Stetten, F., et al. (2015) · Lab on a Chip · doi:10.1039/c5lc01068c · Cited by 138

Structural mechanisms of CFTR function and dysfunction

Hwang, T., Yeh, J., Zhang, J., Yu, Y.-C., Yeh, H., & DeStefano, S. (2018) · The Journal of General Physiology · doi:10.1085/jgp.201711946 · Cited by 138

Structure-guided combination therapy to potently improve the function of mutant CFTRs

Veit, G., Xu, H., Dreano, E., Avramescu, R. G., Bagdany, M., Beitel, L. K., Roldan, A., Hancock, M. A., Lay, C., Li, W., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0200-x · Cited by 134

Safety, pharmacokinetics, and pharmacodynamics of lumacaftor and ivacaftor combination therapy in children aged 2–5 years with cystic fibrosis homozygous for F508del-CFTR: an open-label phase 3 study

McNamara, J., McColley, S. A., Marigowda, G., Liu, F., Tian, S., Owen, C. A., Stiles, D., Li, C., Waltz, D. A., Wang, L. T., et al. (2019) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(18)30460-0 · Cited by 136

High-Efficiency, Selection-free Gene Repair in Airway Stem Cells from Cystic Fibrosis Patients Rescues CFTR Function in Differentiated Epithelia

Vaidyanathan, S., Salahudeen, A. A., Sellers, Z. M., Bravo, D. T., Choi, S. S., Batish, A., Le, W., Baik, R., Sean de la, O., Kaushik, M. P., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.11.002 · Cited by 141

Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model

Mehta, A. K., Ramachandra, C. J. A., Singh, P., Chitre, A., Lua, C. H., Mura, M., Crotti, L., Wong, P., Schwartz, P. J., Gnecchi, M., et al. (2017) · European Heart Journal · doi:10.1093/eurheartj/ehx394 · Cited by 131

Small-Molecule Structure Correctors Target Abnormal Protein Structure and Function: Structure Corrector Rescue of Apolipoprotein E4–Associated Neuropathology: Miniperspective

Mahley, R. W., & Huang, Y. (2012) · Journal of Medicinal Chemistry · doi:10.1021/jm3008618 · Cited by 132

Cystic Fibrosis Gene Therapy: Looking Back, Looking Forward

Cooney, A. L., McCray, P. B., & Sinn, P. L. (2018) · Genes · doi:10.3390/genes9110538 · Cited by 138

Chitosan in Non-Viral Gene Delivery: Role of Structure, Characterization Methods, and Insights in Cancer and Rare Diseases Therapies

Santos-Carballal, B., Fernández, E. F., & Goycoolea, F. M. (2018) · Polymers · doi:10.3390/polym10040444 · Cited by 136

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion

Sharma, J., Du, M., Wong, E., Mutyam, V., Li, Y., Chen, J., Wangen, J. R., Thrasher, K., Fu, L., Peng, N., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24575-x · Cited by 130

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

Fanen, P., Wohlhuter‐Haddad, A., & Hinzpeter, A. (2014) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2014.02.023 · Cited by 143

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Boj, S. F., Vonk, A. M., Statia, M., Su, J., Dekkers, J. F., Vries, R., Beekman, J. M., & Clevers, H. C. (2017) · Journal of Visualized Experiments · doi:10.3791/55159 · Cited by 138

Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine

Pranke, I. M., Golec, A., Hinzpeter, A., Edelman, A., & Sermet‐Gaudelus, I. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00121 · Cited by 127

Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis

Derichs, N. (2013) · European Respiratory Review · doi:10.1183/09059180.00008412 · Cited by 122

Barriers to inhaled gene therapy of obstructive lung diseases: A review

Kim, N., Duncan, G. A., Hanes, J. S., & Suk, J. S. (2016) · Journal of Controlled Release · doi:10.1016/j.jconrel.2016.05.031 · Cited by 122

Effects of Lumacaftor–Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis

Graeber, S. Y., Dopfer, C., Naehrlich, L., Gyulumyan, L., Scheuermann, H., Hirtz, S., Wege, S., Mairbäurl, H., Dorda, M., Hyde, R., et al. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201710-1983oc · Cited by 146

Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases

Tao, Y., & Conn, P. M. (2018) · Physiological Reviews · doi:10.1152/physrev.00029.2016 · Cited by 118

Recurrent Acute Pancreatitis

Guda, N. M., Muddana, V. N., Whitcomb, D. C., Lévy, P., Garg, P. K., Coté, G. A., Uç, A., Varadarajulu, S. S., Vege, S. S., Chari, S. T., et al. (2018) · Pancreas · doi:10.1097/mpa.0000000000001053 · Cited by 117

Anion carriers as potential treatments for cystic fibrosis: transport in cystic fibrosis cells, and additivity to channel-targeting drugs

Li, H., Valkenier, H., Thorne, A. G., Dias, C. M., Cooper, J. A., Kieffer, M., Busschaert, N., Gale, P. A., Sheppard, D. N., & Davis, A. P. (2019) · Chemical Science · doi:10.1039/c9sc04242c · Cited by 144

Suppression of premature termination codons as a therapeutic approach

Keeling, K. M., Wang, D., Conard, S. E., & Bedwell, D. M. (2012) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2012.694846 · Cited by 111

Corrector VX-809 stabilizes the first transmembrane domain of CFTR

Loo, T. W., Bartlett, M. C., & Clarke, D. M. (2013) · Biochemical Pharmacology · doi:10.1016/j.bcp.2013.06.028 · Cited by 110

Protein damage, ageing and age-related diseases

Kriško, A., & Radman, M. (2019) · Open Biology · doi:10.1098/rsob.180249 · Cited by 114

From the endoplasmic reticulum to the plasma membrane: mechanisms of CFTR folding and trafficking

Farinha, C. M., & Canato, S. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2387-7 · Cited by 108

Drug discovery and development for rare genetic disorders

Sun, W., Zheng, W., & Simeonov, A. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38326 · Cited by 107

Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients

Amaral, M. D. (2014) · Journal of Internal Medicine · doi:10.1111/joim.12314 · Cited by 122

Pharmacological Chaperones: Design and Development of New Therapeutic Strategies for the Treatment of Conformational Diseases

Convertino, M., Das, J., & Dokholyan, N. V. (2016) · ACS Chemical Biology · doi:10.1021/acschembio.6b00195 · Cited by 105

Brushed nasal epithelial cells are a surrogate for bronchial epithelial CFTR studies

Brewington, J. J., Filbrandt, E. T., LaRosa, F. J., Moncivaiz, J. D., Ostmann, A. J., Strecker, L. M., & Clancy, J. P. (2018) · JCI Insight · doi:10.1172/jci.insight.99385 · Cited by 106

Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles

Taylor-Cousar, J. L., Mall, M. A., Ramsey, B. W., McKone, E. F., Tullis, E., Marigowda, G., McKee, C. M., Waltz, D., Moskowitz, S. M., Savage, J., et al. (2019) · ERJ Open Research · doi:10.1183/23120541.00082-2019 · Cited by 105

Thymosin α1 represents a potential potent single-molecule-based therapy for cystic fibrosis

Romani, L. R., Oikonomou, V., Moretti, S., Iannitti, R. G., D’Adamo, M. C., Villella, V. R., Pariano, M., Sforna, L., Borghi, M., Bellet, M. M., et al. (2017) · Nature Medicine · doi:10.1038/nm.4305 · Cited by 105

Increased efficacy of VX ‐809 in different cellular systems results from an early stabilization effect of F508del‐ CFTR

Farinha, C. M., Sousa, M., Canato, S., Schmidt, A., Uliyakina, I., & Amaral, M. D. (2015) · Pharmacology Research & Perspectives · doi:10.1002/prp2.152 · Cited by 43

Pharmacological Correction of Cystic Fibrosis: Molecular Mechanisms at the Plasma Membrane to Augment Mutant CFTR Function

Arora, K., & Naren, A. P. (2016) · Current Drug Targets · doi:10.2174/1389450117666151209114343 · Cited by 11

Unravelling the Regions of Mutant F508del-CFTR More Susceptible to the Action of Four Cystic Fibrosis Correctors

Amico, G., Brandas, C., Morán, Ó., & Baroni, D. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20215463 · Cited by 27

Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment

Capurro, V., Tomati, V., Sondo, E., Renda, M., Borrelli, A., Pastorino, C., Guidone, D., Venturini, A., Giraudo, A., Bertozzi, S. M., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22105262 · Cited by 72

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

Farinha, C. M., King-Underwood, J., Sousa, M., Correia, A. R., Henriques, B. J., Roxo‐Rosa, M., Paula, A. C. D., Williams, J. P., Hirst, S., Gomes, C. M., et al. (2013) · Chemistry & Biology · doi:10.1016/j.chembiol.2013.06.004 · Cited by 164