ABCMdb

PMID: 21602569

Yu W, Chiaw PK, Bear CE
Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant.
J Biol Chem. 2011 Jul 15;286(28):24714-25. Epub 2011 May 21., 2011-07-15 [PubMed]

Sentences

No. Mutations Sentence Comment

259 ABCC7 p.Arg555Lys In the context of the full-length F508del-CFTR protein, the substitution of R553 M, or the substitution of arginine to lysine at position 555, led to partial rescue of the primary processing defect, and hence, these were originally described as "suppressor" mutations (24, 25). Login to comment 264 ABCC7 p.Gly550Glu ABCC7 p.Arg553Met ABCC7 p.Arg555Lys In addition, Thibodeau et al. (28) showed that in the context of the full-length protein, F508del-NBD1 exhibited enhanced protease sensitivity (in limited proteolysis studies) relative to WT-CFTR-NBD1 and further that the solubilizing mutations (G550E, R553M, and R555K) conferred protease resistance to F508del-NBD1. Login to comment