PMID: 10640318

Singh AK, Devor DC, Gerlach AC, Gondor M, Pilewski JM, Bridges RJ
Stimulation of Cl(-) secretion by chlorzoxazone.
J Pharmacol Exp Ther. 2000 Feb;292(2):778-87., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:95:193
status: NEW
view ABCC7 p.Gly551Asp details
Eight nonsmoking healthy subjects (six males, two females) with no history of respiratory disease, and five CF patients (four males, one female), four homozygous with ⌬F508 and one with G551D/ ⌬F508 mutations were studied. Login to comment
285 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:13
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:182
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:183
status: NEW
view ABCC7 p.Gly551Asp details
Although the G551D mutation does reach the plasma membrane, its channel function is significantly impaired and this may explain why we did not observe a Cl-secretory response in the G551D/ ⌬F508-CFTR CF patient. Login to comment