In the past few years since the cloning of the gene defective in cystic fibrosis, much has been learned on the function of the protein cystic fibrosis transmembrane conductance regulator (CFTR) and on the mechanisms regulating its expression. Based on the current understanding of the processes involved in lung disease progression, a number of approaches have been developed using not only gene therapy, but also pharmacological agents. Several of these agents have been reported to restore function to CFTR with specific mutations.
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ACS Nano
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Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, Québec H2X 0A9, Canada.
The abnormally viscous and thick mucus is a hallmark of cystic fibrosis (CF). How the mutated CF gene causes abnormal mucus remains an unanswered question of paramount interest. Mucus is produced by the hydration of gel-forming mucin macromolecules that are stored in intracellular granules prior to release.
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Laboratory Medicine and Pathology, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN, 55455, USA.
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Department of Clinical Microbiology, Rigshospitalet, Copenhagen, Denmark.
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