ABCMdb

PMID: 9518736

Briel M, Greger R, Kunzelmann K
Cl- transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC.
J Physiol. 1998 May 1;508 ( Pt 3):825-36., 1998-05-01 [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg347Glu ABCC7 p.Lys335Glu The following CFTR mutations were generated: CF-associated mutations such as ÄF508, G551D and R117H as well as artificial mutations within MSD1 such as R347E and K335E (Hipper et al. 1995). Login to comment 103 ABCC7 p.Gly551Asp Two mutants (G551D-CFTR and ÄF508-CFTR) contain amino acid changes located within the first nucleotide binding domain and are known to cause severe forms of CF (Welsh & Smith, 1993). Login to comment 104 ABCC7 p.Arg117His Another mutant examined contains a mutation in the first extracellular loop (R117H) and was described as a mild form of CF (Dean et al. 1990). Login to comment 105 ABCC7 p.Arg347Glu ABCC7 p.Lys335Glu Finally, two artificial mutations (R347E and K335E) in the 6th transmembrane spanning domain were initially created in order to examine properties of the putative pore of CFTR (Anderson et al. 1991). Login to comment 107 ABCC7 p.Gly551Asp ABCC7 p.Lys335Glu K335E generated Cl¦ conductances very similar to those of CFTR whereas G551D was almost ineffective. Login to comment 109 ABCC7 p.Gly551Asp Figure 3 indicates that for mutants which produced little or no Cl¦ conductance (G551D or ÄF508), the inhibitory effect on ENaC was also very small or even absent. Login to comment 110 ABCC7 p.Arg117His ABCC7 p.Arg347Glu ABCC7 p.Lys335Glu In contrast, other mutations, which still activated whole-cell Cl¦ conductance (R117H, R347E, K335E) downregulated ENaC currents. Login to comment 208 ABCC7 p.Gly551Asp The G551D mutation located within this sequence abolished the inhibitory effect. Login to comment