Use of protein repair therapy in the treatment of cystic fibrosis.
Disruption in the biosynthesis or function the cystic fibrosis transmembrane conductance regulator (CFTR) results from over 700 different mutations in the CFTR gene. It is useful to classify these mutations by the nature of the resulting defect. Understanding the molecular mechanism that leads to CFTR dysfunction stimulates the design of therapeutic strategies based on restoration of CFTR function to the mutant protein, or "protein repair therapy." This review links the classification of CFTR mutations to a number of new pharmacologic strategies that lead to enhancement of CFTR function by manipulation of mutant CFTR.
Rubenstein
R C
RC
Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Zeitlin
P L
PL
D018388:Codon, Terminator / Q000187:drug effects / Q000235:genetics; D003550:Cystic Fibrosis / Q000145:classification / Q000188:drug therapy* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000096:biosynthesis / Q000187:drug effects / Q000235:genetics*; D015870:Gene Expression / Q000187:drug effects; D005839:Gentamicins / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D017136:Ion Transport / Q000187:drug effects / Q000235:genetics; D008565:Membrane Proteins / Q000187:drug effects / Q000235:genetics; D018832:Molecular Chaperones / Q000187:drug effects / Q000494:pharmacology; D009154:Mutation / Q000187:drug effects* / Q000235:genetics; D010654:Phenylbutyrates / Q000627:therapeutic use
C505032:CFTR protein, human; D018388:Codon, Terminator; D005839:Gentamicins; D008565:Membrane Proteins; D018832:Molecular Chaperones; D010654:Phenylbutyrates; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C075773:4-phenylbutyric acid