title: Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis.
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.
authors.affiliation: Respiratory TA, GlaxoSmithKline, Gunnels Wood Road, Stevenage, Hertfordshire SG1 2NY, UK.
authors.forename: Véronique
authors.initials: V
authors.lastname: Birault
authors.forename: Roberto
authors.initials: R
authors.lastname: Solari
authors.forename: John
authors.initials: J
authors.lastname: Hanrahan
authors.forename: David Y
authors.initials: DY
authors.lastname: Thomas
mesh_terms: D003550:Cystic Fibrosis / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism*; D004333:Drug Administration Routes; D055808:Drug Discovery / Q000379:methods*; D006801:Humans; D009154:Mutation; D021381:Protein Transport / Q000187:drug effects / Q000235:genetics
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator