Review
Understanding how cystic fibrosis mutations cause a loss of Cl − channel function
Molecular Medicine Today, Vol.2(7), pp.290-297
1996
DOI: 10.1016/1357-4310(96)10028-9
PMID: 8796909
Abstract
Defective epithelial Cl
− secretion is the hallmark of the lethal genetic disease cystic fibrosis (CF). This abnormality is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), a regulated Cl
− channel. Since the identification of the single gene encoding CFTR, several hundred disease-causing mutations, associated with a wide variety of clinical phenotypes, have been reported. To understand the relationship between genotype and clinical phenotype, researchers have investigated how mutations in CFTR disrupt its function. Here, we review the recent progress in understanding how CF-associated mutations in CFTR produce defective Cl
− channels, and discuss the implications of this knowledge for the development of therapy for CF.
Details
- Title: Subtitle
- Understanding how cystic fibrosis mutations cause a loss of Cl − channel function
- Creators
- David N Sheppard - BBSRC Postdoctoral Fei Departments of Medicine and Biochemistry, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh, UK EH4 2XULynda S Ostedgaard - Research Scientist, Howard Hughes Medical Institute, Departments of Internal Medicine, and Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, USA
- Resource Type
- Review
- Publication Details
- Molecular Medicine Today, Vol.2(7), pp.290-297
- Publisher
- Elsevier B.V
- DOI
- 10.1016/1357-4310(96)10028-9
- PMID
- 8796909
- ISSN
- 1357-4310
- Language
- English
- Date published
- 1996
- Academic Unit
- Internal Medicine
- Record Identifier
- 9984094605102771
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