ABCMdb

PMID: 12411484

Ko SB, Shcheynikov N, Choi JY, Luo X, Ishibashi K, Thomas PJ, Kim JY, Kim KH, Lee MG, Naruse S, Muallem S
A molecular mechanism for aberrant CFTR-dependent HCO(3)(-) transport in cystic fibrosis.
EMBO J. 2002 Nov 1;21(21):5662-72., 2002-11-01 [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly551Asp ABCC7 p.Arg117His The physiological signi®- cance of these ®ndings is demonstrated by interaction of CFTR and DRA in the mouse pancreas and an altered activation of DRA by the R117H and G551D mutants of CFTR. Login to comment 220 ABCC7 p.Gly551Asp ABCC7 p.Arg117His In (A) and (B), the cells were transfected with 0.5 mg of CFTR, in (C) with 0.5 mg of CFTR(R117H) and in (D) with 0.5 mg of CFTR(G551D). Login to comment 249 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His We focused on the R117H and the G551D mutants since these mutants are well characterized clinically and R117H is associated with a mild form and G551D with a severe form of CF (Wilschanski et al., 1995). Login to comment 252 ABCC7 p.Gly551Asp ABCC7 p.Arg117His Figure 8C and E shows that the R117H mutant activated DRA by only 2.5-fold (26% of that by the wild-type CFTR), whereas the G551D mutant was unable to activate DRA. Login to comment 283 ABCC7 p.Gly551Asp ABCC7 p.Arg117His A signi®cant ®nding was the modi®ed activation of DRA by the R117H and G551D mutants of CFTR. Login to comment 292 ABCC7 p.Gly551Asp ABCC7 p.Arg117His The R117H and G551D mutants were prepared as described (Choi et al., 2001). Login to comment