Defining the defect in F508 del CFTR: a soluble problem?
Previously reported crystal structures of CFTR F508 del-NBD1 were determined in the presence of solubilizing mutations. In this issue of Chemistry & Biology, Pissarra et al. (2008) show that partial rescue of the trafficking and gating defects of full-length CFTR occurs in vivo upon recapitulation of the solubilizing F494N/Q637R or F428S/F494N/Q637R substitutions in cis with F508 del.
Deber
Charles M
CM
Division of Molecular Structure & Function, Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada. deder@sickkids.ca
Cheung
Joanne C
JC
Rath
Arianna
A
D001685:Biological Factors / Q000235:genetics / Q000502:physiology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics / Q000502:physiology*; D008958:Models, Molecular; D009154:Mutation; D009711:Nucleotides / Q000235:genetics / Q000378:metabolism; D012995:Solubility; D012996:Solutions / Q000737:chemistry; D013237:Stereoisomerism
D001685:Biological Factors; D009711:Nucleotides; D012996:Solutions; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator