Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis

Villamizar, O., et al. (2019). Targeted activation of cystic fibrosis transmembrane conductance regulator. Molecular Therapy, 27(10), 1737–1748.

Article  PubMed  PubMed Central  CAS  Google Scholar 

[cited 2023 22-08-2023]; Available from: https://www.yourgenome.org/facts/what-is-cystic-fibrosis/.

Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45–56.

Article  PubMed  CAS  Google Scholar 

Guggino, W. B., & Stanton, B. A. (2006). New insights into cystic fibrosis: molecular switches that regulate CFTR. Nature Reviews Molecular Cell Biology, 7(6), 426–436.

Article  PubMed  CAS  Google Scholar 

Lopes-Pacheco, M. (2019). CFTR modulators: the changing face of cystic fibrosis in the era of precision medicine. Frontiers in Pharmacology, 10, 1662.

Article  PubMed  CAS  Google Scholar 

De Boeck, K., & Amaral, M. D. (2016). Progress in therapies for cystic fibrosis. The Lancet Respiratory Medicine, 4(8), 662–674.

Article  PubMed  Google Scholar 

Mall, M. A., & Hartl, D. (2014). CFTR: cystic fibrosis and beyond. European Respiratory Society.

Winikates, K. (2012). Cystic fibrosis transmembrane conductance regulator (CFTR) gene. In Embryo Project Encyclopedia. Arizona State University. School of Life Sciences. Center for Biology and Society. Embryo Project Encyclopedia.

Verkman, A. S., et al. (2013). CFTR inhibitors. Current Pharmaceutical Design, 19(19), 3529–3541.

Article  PubMed  PubMed Central  CAS  Google Scholar 

[cited 2023 06-10-2023]; Available from: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.

Lyczak, J. B., Cannon, C. L., & Pier, G. B. (2002). Lung infections associated with cystic fibrosis. Clinical Microbiology Reviews, 15(2), 194–222.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Quinton, P. M. (1999). Physiological basis of cystic fibrosis: a historical perspective. Physiological Reviews, 79(1), S3–S22.

Article  PubMed  CAS  Google Scholar 

Barbry, P., Marcet, B. & Caballero, I. (2021). Where is the cystic fibrosis transmembrane conductance regulator? American Thoracic Society, 10, 1214–1216.

Google Scholar 

Hull, J. (2012). Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment. Journal of the Royal Society of Medicine, 105(2), 2–8.

Article  Google Scholar 

Antigny, F., et al. (2011). CFTR and Ca2+ signaling in cystic fibrosis. Frontiers in Pharmacology, 2, 67.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gadsby, D. C., Vergani, P., & Csanády, L. (2006). The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature, 440(7083), 477–483.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Liu, F., et al. (2017). Molecular structure of the human CFTR ion channel. Cell, 169(1), 85–95.e8.

Article  PubMed  CAS  Google Scholar 

Zhang, Z., Liu, F., & Chen, J. (2018). Molecular structure of the ATP-bound, phosphorylated human CFTR. Proceedings of the National Academy of Sciences, 115(50), 12757–12762.

Article  CAS  Google Scholar 

Kim, S. J., & Skach, W. R. (2012). Mechanisms of CFTR folding at the endoplasmic reticulum. Frontiers in Pharmacology, 3, 201.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Quinton, P. M. (2001). The neglected ion: HCO3−. Nature Medicine, 7(3), 292–293.

Article  PubMed  CAS  Google Scholar 

Boucher, R. C. (2007). Cystic fibrosis: a disease of vulnerability to airway surface dehydration. Trends in Molecular Medicine, 13(6), 231–240.

Article  PubMed  CAS  Google Scholar 

Della Sala, A., et al. (2021). Role of protein kinase A-mediated phosphorylation in CFTR channel activity regulation. Frontiers in Physiology, 12, 690247.

Article  PubMed  PubMed Central  Google Scholar 

Chen, J.-H. (2020). Protein kinase A phosphorylation potentiates cystic fibrosis transmembrane conductance regulator gating by relieving autoinhibition on the stimulatory C terminus of the regulatory domain. Journal of Biological Chemistry, 295(14), 4577–4590.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Li, H., et al. (2018). Therapeutic approaches to CFTR dysfunction: from discovery to drug development. Journal of Cystic Fibrosis, 17(2), S14–S21.

Article  PubMed  CAS  Google Scholar 

Hwang, T.-C., et al. (2018). Structural mechanisms of CFTR function and dysfunction. Journal of General Physiology, 150(4), 539–570.

Article  PubMed  PubMed Central  CAS  Google Scholar 

[cited 2023 25-04-2023]; Available from: https://cftr2.org/mutations_history.

Zemanick, E.T. & Polineni, D. (2019). Unraveling the CFTR function–phenotype connection for precision treatment in cystic fibrosis. American Thoracic Society, 199(9), 1053–1054.

Google Scholar 

Wilschanski, M. (2012). Class 1 CF mutations. Frontiers in Pharmacology, 3, 117.

Article  PubMed  PubMed Central  Google Scholar 

De Boeck, K., et al. (2014). The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. Journal of Cystic Fibrosis, 13(4), 403–409.

Article  PubMed  Google Scholar 

Du, K., Sharma, M., & Lukacs, G. L. (2005). The ΔF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nature Structural & Molecular Biology, 12(1), 17–25.

Article  CAS  Google Scholar 

Lukacs, G., et al. (1993). 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. Journal of Biological Chemistry, 268(29), 21592–21598.

Article  PubMed  CAS  Google Scholar 

Yu, H., et al. (2012). Ivacaftor potentiation of multiple CFTR channels with gating mutations. Journal of Cystic Fibrosis, 11(3), 237–245.

Article  PubMed  CAS  Google Scholar 

LaRusch, J., et al. (2014). Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genetics, 10(7), e1004376.

Article  PubMed  PubMed Central  Google Scholar 

Ramalho, A. S., et al. (2009). Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients. Cellular Physiology and Biochemistry, 24(5-6), 335–346.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Pranke, I., et al. (2019). Emerging therapeutic approaches for cystic fibrosis. From gene editing to personalized medicine. Frontiers in Pharmacology, 10, 121.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Norez, C., et al. (2004). Determination of CFTR chloride channel activity and pharmacology using radiotracer flux methods. Journal of Cystic Fibrosis, 3, 119–121.

Article  PubMed  CAS  Google Scholar 

Long, K. J., & Walsh, K. B. (1997). Iodide efflux measurements with an iodide-selective electrode: a non-radioactive procedure for monitoring cellular chloride transport. Methods in Cell Science, 19, 207–212.

Article  Google Scholar 

Ramalho, A. S., et al. (2022). Assays of CFTR function in vitro, ex vivo and in vivo. International Journal of Molecular Sciences, 23(3), 1437.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Orosz, D. E., & Garlid, K. D. (1993). A sensitive new fluorescence assay for measuring proton transport across liposomal membranes. Analytical Biochemistry, 210(1), 7–15.

Article  PubMed  CAS  Google Scholar 

Munkonge, F., et al. (2004). Measurement of halide efflux from cultured and primary airway epithelial cells using fluorescence indicators. Journal of Cystic Fibrosis, 3, 171–176.

Article  PubMed  CAS  Google Scholar 

Verkman, A. S., & Jayaraman, S. (2002). Fluorescent indicator methods to assay functional CFTR expression in cells. In Cystic fibrosis methods and protocols, Springer, 187–196.

Smith, E., et al. (2017). A homogeneous cell-based halide-sensitive yellow fluorescence protein assay to identify modulators of the cystic fibrosis transmembrane conductance regulator ion channel. Assay and Drug Development Technologies, 15(8), 395–406.

Article  PubMed  CAS  Google Scholar 

Clancy, J. P., et al. (2019). CFTR modulator theratyping: current status, gaps and future directions. Journal of Cystic Fibrosis, 18(1), 22–34.

Article  PubMed 

留言 (0)

沒有登入
gif