CFTR and chaperones: processing and degradation.

Abstract excerpt

The autosomal recessive disease cystic fibrosis (CF) is caused by mutations in the gene coding for the CF transmembrane conductance regulator (CFTR) protein, a cAMP-activated chloride channel expressed at the apical membrane of epithelial cells. Although about 1000 different mutations have been identified, most CF patients carry the F508del mutation in at least one CFTR allele. F508del-CFTR is synthesized but is...

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