ABCMdb

PMID: 20423679

Bodas M, Vij N
The NF-kappaB signaling in cystic fibrosis lung disease: pathophysiology and therapeutic potential.
Discov Med. 2010 Apr;9(47):346-56., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp Weber et al. (2001) evaluated cells with the CFTR G551D mutation that produces a protein that is trafficked normally to the cell membrane but lacks Cl-channel function. Login to comment 58 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp Both G551Dand ΔF508- mutations were associated with the upregulation of NFκB activation and increased production of IL-8 although the NFκB activation in the presence of G551D mutation is only about 2-fold as compared to 7-fold for ΔF508. Login to comment 102 ABCC7 p.Gly542* Recent data suggest that the higher inflammation in ΔF508 CF could be a consequence of fewer CFTR molecules at the membrane, as would be predicted also with other rare CF stop mutations such as G542X (McCormick et al., 2002). Login to comment