Class 1 CF Mutations

Overview

Journal Front Pharmacol

Date 2012 Jun 23

PMID 22723780

Citations 10

Authors

Michael Wilschanski

Affiliations

Soon will be listed here.

Citing Articles

Han X, Li D, Zhu Y, Schneider-Futschik E ACS Pharmacol Transl Sci. 2024; 7(4):933-950.

PMID: 38633590 PMC: 11019735. DOI: 10.1021/acsptsci.3c00362.

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

Thakur S, Ankita , Dash S, Verma R, Kaur C, Kumar R Cell Biochem Biophys. 2023; 82(1):15-34.

PMID: 38048024 DOI: 10.1007/s12013-023-01200-w.

Expression of gain-of-function CFTR in cystic fibrosis airway cells restores epithelial function better than wild-type or codon-optimized CFTR.

Woodall M, Tarran R, Lee R, Anfishi H, Prins S, Counsell J Mol Ther Methods Clin Dev. 2023; 30:593-605.

PMID: 37701179 PMC: 10494266. DOI: 10.1016/j.omtm.2023.08.006.

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Michorowska S Pharmaceuticals (Basel). 2021; 14(8).

PMID: 34451881 PMC: 8398184. DOI: 10.3390/ph14080785.

A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay.

Sharma J, Abbott J, Klaskala L, Zhao G, Birket S, Rowe S Front Physiol. 2021; 11:611294.

PMID: 33391025 PMC: 7772197. DOI: 10.3389/fphys.2020.611294.

References

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Wilschanski M, Miller L, Shoseyov D, Blau H, Rivlin J, Aviram M . Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J. 2011; 38(1):59-69. DOI: 10.1183/09031936.00120910. View

Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J . Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med. 2003; 349(15):1433-41. DOI: 10.1056/NEJMoa022170. View

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Linde L, Boelz S, Nissim-Rafinia M, Oren Y, Wilschanski M, Yaacov Y . Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest. 2007; 117(3):683-92. PMC: 1783999. DOI: 10.1172/JCI28523. View

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