ABCMdb

PMID: 19477416

Kim Chiaw P, Huan LJ, Gagnon S, Ly D, Sweezey N, Rotin D, Deber CM, Bear CE
Functional rescue of DeltaF508-CFTR by peptides designed to mimic sorting motifs.
Chem Biol. 2009 May 29;16(5):520-30., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Arg553Met ABCC7 p.Arg555Lys Previously, Teem and Welsh determined that second site revertant mutations in an endogenous RXR motif, proximal to the ABC signature sequence in NBD1 (including R553M and R555K in the motif: R553 AR555 ), partially restored trafficking of deltaF508-CFTR, suggesting that the motif in this region has particular functional significance (Teem et al., 1993, 1996). Login to comment 51 ABCC7 p.Arg553Met ABCC7 p.Arg555Lys The current studies focus on the RXR motif residing in NBD1, proximal to the ABC signature motif and starting at the arginine at position 553, as it has been implicated in ER retrieval of deltaF508-CFTR with mutations R553M/Q or R555K leading to the enhanced surface expression of the major mutant (Teem et al., 1993, 1996). Login to comment