{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:29:24Z","timestamp":1760059764438,"version":"build-2065373602"},"reference-count":41,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,13]],"date-time":"2025-07-13T00:00:00Z","timestamp":1752364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder among Caucasian populations, with an incidence of 1 in 2500\u20133500 live births across Europe [...]<\/jats:p>","DOI":"10.3390\/ijms26146708","type":"journal-article","created":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T10:55:41Z","timestamp":1752490541000},"page":"6708","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Special Issue \u201cResearch Advances on Cystic Fibrosis and CFTR Protein\u201d"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8764-2468","authenticated-orcid":false,"given":"Debora","family":"Baroni","sequence":"first","affiliation":[{"name":"Istituto di Biofisica, Consiglio Nazionale delle Ricerche (CNR), Via De Marini, 6, 16149 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,13]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., and Vogelstein, B. (2001). Cystic fibrosis. The Metabolic and Molecular Basis of Inherited Disease, McGraw Hill. [8th ed.]."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1126\/science.2475911","article-title":"Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA","volume":"245","author":"Riordan","year":"1989","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1055\/s-0039-1694021","article-title":"Cystic Fibrosis: Pathophysiology of Lung Disease","volume":"40","author":"Bergeron","year":"2019","journal-title":"Semin. Respir. Crit. Care Med."},{"key":"ref_4","first-page":"427","article-title":"Pancreatic involvement in cystic fibrosis","volume":"107","author":"Alahdab","year":"2016","journal-title":"Minerva Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"15010","DOI":"10.1038\/nrdp.2015.10","article-title":"Cystic fibrosis","volume":"1","author":"Ratjen","year":"2015","journal-title":"Nat. Rev. Dis. Primers."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jpeds.2016.09.064","article-title":"Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation","volume":"181","author":"Farrell","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1111\/apa.15155","article-title":"Cystic fibrosis in the year 2020: A disease with a new face","volume":"109","year":"2020","journal-title":"Acta Paediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"eS4","DOI":"10.1016\/S0929-693X(20)30043-9","article-title":"Genetics of cystic fibrosis: Basics","volume":"27","author":"Scotet","year":"2020","journal-title":"Arch. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.jcf.2009.10.003","article-title":"A 10-year large-scale cystic fibrosis carrier screening in the Italian population","volume":"9","author":"Picci","year":"2010","journal-title":"J. Cyst. Fibros."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.jcf.2008.03.007","article-title":"The prevalence of cystic fibrosis in the European Union","volume":"7","author":"Farrell","year":"2008","journal-title":"J. Cyst. Fibros."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1016\/j.lpm.2017.04.010","article-title":"The diagnosis of cystic fibrosis","volume":"46","author":"Vermeulen","year":"2017","journal-title":"Presse Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1001\/jama.2009.1758","article-title":"Association between carrier screening and incidence of cystic fibrosis","volume":"302","author":"Castellani","year":"2009","journal-title":"JAMA"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Farrell, P.M., Rock, M.J., and Baker, M.W. (2020). The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy. Genes, 11.","DOI":"10.3390\/genes11040401"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1055\/s-0042-1758851","article-title":"CFTR Modulators: Current Status and Evolving Knowledge","volume":"44","author":"Regard","year":"2023","journal-title":"Semin. Respir. Crit. Care Med."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Baroni, D. (2025). Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review. Curr. Issues Mol. Biol., 47.","DOI":"10.3390\/cimb47020119"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1002\/ppul.23240","article-title":"Breakthrough therapies: Cystic fibrosis (CF) potentiators and correctors","volume":"50","author":"Solomon","year":"2015","journal-title":"Pediatr. Pulmonol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1085\/jgp.201711886","article-title":"A common mechanism for CFTR potentiators","volume":"149","author":"Yeh","year":"2017","journal-title":"J. Gen. Physiol."},{"key":"ref_18","first-page":"281","article-title":"CFTR modulators: Transformative therapies for cystic fibrosis","volume":"27","author":"Dwight","year":"2021","journal-title":"J. Manag. Care Spec. Pharm."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/978-1-61779-117-8_2","article-title":"High-throughput screening of libraries of compounds to identify CFTR modulators","volume":"741","author":"Pedemonte","year":"2011","journal-title":"Methods Mol. Biol."},{"key":"ref_20","unstructured":"U.S. Food and Drug Administration (2025, April 30). Clinical Pharmacology and Biopharmaceutics Review(s): Kalydeco (Ivacaftor). NDA 203188, Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/nda\/2012\/203188Orig1s000StatR.pdf."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"4404","DOI":"10.1073\/pnas.1215982110","article-title":"Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle","volume":"110","author":"Jih","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"9776","DOI":"10.1021\/jm5012808","article-title":"Discovery of N-(2,4-di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide (VX-770, ivacaftor), a potent and orally bioavailable CFTR potentiator","volume":"57","author":"Hadida","year":"2014","journal-title":"J. Med. Chem."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1136\/thoraxjnl-2011-200393","article-title":"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","volume":"67","author":"Clancy","year":"2012","journal-title":"Thorax"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"18843","DOI":"10.1073\/pnas.1105787108","article-title":"Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809","volume":"108","author":"Hadida","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1056\/NEJMoa1709846","article-title":"Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del","volume":"377","author":"Munck","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1164\/rccm.201704-0717OC","article-title":"VX11-661-101 Study Group Tezacaftor\/Ivacaftor in Subjects with Cystic Fibrosis and F508del\/F508del-CFTR or F508del\/G551D-CFTR","volume":"197","author":"Donaldson","year":"2018","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S2213-2600(14)70132-8","article-title":"VX09-809-102 study group. 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","volume":"2","author":"Boyle","year":"2014","journal-title":"Lancet Respir. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1056\/NEJMoa1908639","article-title":"VX17-445-102 Study Group. Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele","volume":"381","author":"Middleton","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_29","unstructured":"U.S. Food and Drug Administration (2025, June 09). Clinical Review: Trikafta (elexacaftor\/tezacaftor\/ivacaftor). NDA 212273. Retrieved from FDA Approval Package, Available online: https:\/\/www.fda.gov\/drugs\/drug-approvals-and-databases\/drug-trials-snapshots-trikafta."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1186\/s13023-017-0694-1","article-title":"What can the CF registry tell us about rare CFTR-mutations? A Belgian study","volume":"12","author":"Thomas","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1097\/MCP.0000000000000521","article-title":"Theratyping in cystic fibrosis","volume":"24","author":"Crawford","year":"2018","journal-title":"Curr. Opin. Pulm. Med."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Nick, H.J., Christeson, S.E., and Bratcher, P.E. (2025). VX-770, Cact-A1, and Increased Intracellular cAMP Have Distinct Acute Impacts upon CFTR Activity. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26020471"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Schnell, A., Tamm, S., Hedtfeld, S., Gonzalez, C.R., Hoerning, A., Lachmann, N., Stanke, F., Dittrich, A.-M., and Munder, A. (2024). Analysis of CFTR mRNA and Protein in Peripheral Blood Mononuclear Cells via Quantitative Real-Time PCR and Western Blot. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25126367"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Merigo, F., Lagni, A., Boschi, F., Bernardi, P., Conti, A., Plebani, R., Romano, M., Sorio, C., Lotti, V., and Sbarbati, A. (2024). Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25116185"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Efremova, A., Kashirskaya, N., Krasovskiy, S., Melyanovskaya, Y., Krasnova, M., Mokrousova, D., Bulatenko, N., Kondratyeva, E., Makhnach, O., and Bukharova, T. (2024). Comprehensive Assessment of CFTR Modulators\u2019 Therapeutic Efficiency for N1303K Variant. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25052770"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Bongiorno, R., Ludovico, A., Moran, O., and Baroni, D. (2023). Elexacaftor Mediates the Rescue of F508del CFTR Functional Expression Interacting with MSD2. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241612838"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S2213-2600(19)30337-6","article-title":"The future of cystic fibrosis care: A global perspective","volume":"8","author":"Bell","year":"2020","journal-title":"Lancet Respir. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"200016","DOI":"10.1183\/20734735.0016-2020","article-title":"The era of CFTR modulators: Improvements made and remaining challenges","volume":"16","author":"Laselva","year":"2020","journal-title":"Breathe"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1002\/ppul.23773","article-title":"Toward inclusive therapy with CFTR modulators: Progress and challenges","volume":"52","author":"Guimbellot","year":"2017","journal-title":"Pediatr. Pulmonol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jcf.2022.04.007","article-title":"Current prices versus minimum costs of production for CFTR modulators","volume":"21","author":"Guo","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jcf.2025.02.010","article-title":"Strategies used to access CFTR modulators in countries without reimbursement agreements","volume":"24","author":"Guo","year":"2025","journal-title":"J. Cyst. Fibros."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/14\/6708\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:09:12Z","timestamp":1760033352000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/14\/6708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,13]]},"references-count":41,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["ijms26146708"],"URL":"https:\/\/doi.org\/10.3390\/ijms26146708","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2025,7,13]]}}}