CFTR: New insights into structure and function and implications for modulation by small molecules

J Cyst Fibros. 2020 Mar:19 Suppl 1:S19-S24. doi: 10.1016/j.jcf.2019.10.021. Epub 2019 Nov 21.

Abstract

Structural biology and functional studies are a powerful combination to elucidate fundamental knowledge about the cystic fibrosis transmembrane conductance regulator (CFTR). Here, we discuss the latest findings, including how clinically-approved drugs restore function to mutant CFTR, leading to better clinical outcomes for people with cystic fibrosis (CF). Despite the prospect of regulatory approval of a CFTR-targeting therapy for most CF mutations, strenuous efforts are still needed to fully comprehend CFTR structure-and-function for the development of better drugs to enable people with CF to live full and active lives.

Keywords: ABC-transporter; Clinical drugs; Cystic fibrosis; F508del; Membrane protein; Mutations; Therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis* / drug therapy
  • Cystic Fibrosis* / genetics
  • Cystic Fibrosis* / physiopathology
  • Humans
  • Ion Channel Gating / drug effects
  • Ion Channel Gating / genetics
  • Molecular Targeted Therapy / methods*
  • Mutation
  • Treatment Outcome

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator