ABCMdb

PMID: 26517912

Bose SJ, Scott-Ward TS, Cai Z, Sheppard DN
Exploiting species differences to understand the CFTR Cl- channel.
Biochem Soc Trans. 2015 Oct 1;43(5):975-82. doi: 10.1042/BST20150129., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Gly551Asp However, use of ivacaftor is restricted to a small cohort of CF patients carrying class III mutations affecting CFTR channel gating (e.g. G551D-CFTR [8,9]) [4]. Login to comment 111 ABCC7 p.Arg117His Recognizing that the gating pattern of hX1-6 resembled the CF mutant R117H-CFTR [53], Price et al. [39] focused on sequence differences in the ECLs. Login to comment 120 ABCC7 p.Ile539Thr ABCC7 p.Ala534Pro ABCC7 p.Ser434Pro ABCC7 p.Ser422Pro ABCC7 p.Ser492Pro Hypothesizing that structural differences between human and chicken CFTR account for the thermostability of F508del chicken CFTR, Aleksandrov et al. [41] demonstrated that the F508del revertant I539T and four proline residues at key positions within NBD1 (S422P, S434P, S492P and A534P) were responsible for rescuing the processing, plasma membrane stability and function of human CFTR. Login to comment