Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator

Kunzelmann, K. H. P. and Nischke, R. (2000) Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator. Experimental Nephrology, 8 6: 332-342. doi:10.1159/000020687


Author Kunzelmann, K. H. P.
Nischke, R.
Title Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator
Journal name Experimental Nephrology   Check publisher's open access policy
ISSN 1610-2129
Publication date 2000-01-01
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1159/000020687
Open Access Status Not yet assessed
Volume 8
Issue 6
Start page 332
End page 342
Total pages 11
Place of publication Basel
Publisher Karger
Language eng
Subject C1
270104 Membrane Biology
730110 Respiratory system and diseases (incl. asthma)
Abstract In most epithelial tissues Cl(-) transport relies on the cystic fibrosis transmembrane conductance regulator (CFTR) which has dual function as a Cl(-) channel and as a regulator of other ion channels. More than 900 different mutations in the CFTR gene are the cause for defective transport of Cl(-) and Na(+) and impaired secretion or absorption of electrolytes in cystic fibrosis. However, the CFTR mutation delta F508 is the most common reason for the frequently inherited disease among the Caucasian population. Maturation and processing of delta F508-CFTR is defective which leads to expression of only very little but functional CFTR in the cell membrane. Understanding the processing and trafficking of CFTR may give a clue to the question as to how the expression and residual function of delta F508-CFTR can be enhanced, and may lead to the development of new pharmacological tools for the treatment of cystic fibrosis.
Q-Index Code C1
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: School of Biomedical Sciences Publications
 
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Created: Tue, 10 Jun 2008, 21:33:38 EST