Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis.

Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis. Curr Opin Chem Biol. 2013 May 24; Authors: Birault V, Solari R, Hanrahan J, Thomas DY Abstract Cystic fibrosis (CF) is the most frequent lethal genetic disease and the most frequent mutation is F508del-cystic fibrosis transmembrane regulator (CFTR). In common with some other protein trafficking diseases the mutant protein is functional but recognized by the cellular quality control system retained in the endoplasmic reticulum (ER) and degraded. There have been some recent impressive advances in developing corrector compounds that restore the trafficking of the mutant protein to the plasma membrane. The targets of these correctors and possible mechanisms of action are discussed. PMID: 23711435 [PubMed - as supplied by publisher]
Source: Current Opinion in Chemical Biology - Category: Biochemistry Authors: Tags: Curr Opin Chem Biol Source Type: research

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A heterogeneous liver pattern could indicate a higher risk for advanced cystic fibrosis liver disease
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