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

ABSTRACT: Cystic fibrosis (CF) remains the most common life-shortening hereditary disease in white populations, with high morbidity and mortality related to chronic airway mucus obstruction, inflammation, infection, and progressive lung damage. In 1989, the discovery that CF is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that encodes a cAMP-dependent anion channel vital for proper Cl^- and HCO₃^- transport across epithelial surfaces provided a solid foundation for unraveling underlying disease mechanisms and the development of therapeutics targeting the basic defect in people with CF. In this review, we focus on recent advances in our understanding of the molecular defects caused by different classes of CFTR mutatio

SUBMITTER: Mall MA 

PROVIDER: S-EPMC7233349 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature