Cystic fibrosis: recent structural insights.
Cystic fibrosis (CF) is a debilitating human disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The recently solved crystal structures of the murine CFTR nucleotide binding domain (NBD) provide insight into the molecular basis of several CF-causing mutations. In addition, the NBD structures reveal several unexpected findings that may have implications concerning CFTR function. In this mini-review, we discuss the key structural features of ATP Binding Cassette (ABC) transporter NBDs, as well as highlight how structural information has aided our understanding of the ATP-regulated solute transport cycle.
Dorwart
Michael
M
Department of Physiology and Graduate Program in Molecular Biophysics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9040, USA.
Thibodeau
Patrick
P
Thomas
Philip
P
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D009154:Mutation
D018528:ATP-Binding Cassette Transporters; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator