PMID: 26137547

Becq F
Predicting CFTR activity with front-runner cystic fibrosis drugs.
EBioMedicine. 2015 Jan 27;2(2):100-1. doi: 10.1016/j.ebiom.2015.01.013. eCollection 2015 Feb., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 26137547:20:232
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 26137547:20:240
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 26137547:20:255
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 26137547:20:270
status: NEW
view ABCC7 p.Tyr1092* details
ABCC7 p.Ala561Glu
X
ABCC7 p.Ala561Glu 26137547:20:210
status: NEW
view ABCC7 p.Ala561Glu details
 The authors evaluated and compared the efficacy of correctors lumacaftor (VX-809) and its analogue C18 on epithelial cell preparations obtained from donors with different CF genotypes - homozygous for F508del, A561E or heterozygous N1303K/ G542X, F508del/G542X, F508del/Y1092X. Login to comment 22 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 26137547:22:228
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 26137547:22:179
status: NEW
view ABCC7 p.Tyr1092* details
ABCC7 p.Ala561Glu
X
ABCC7 p.Ala561Glu 26137547:22:169
status: NEW
view ABCC7 p.Ala561Glu details
 Although they observed great variability in VX-809 responses among patients, they were able to discriminate CFTR mutants positively responding to the correctors such as A561E and Y1092X and those that failed to respond, such as N1303K. Login to comment