ABCMdb

PMID: 24953525

Falguieres T, Ait-Slimane T, Housset C, Maurice M
ABCB4: Insights from pathobiology into therapy.
Clin Res Hepatol Gastroenterol. 2014 Oct;38(5):557-63. doi: 10.1016/j.clinre.2014.03.001. Epub 2014 Jun 19., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCB4 p.Ile541Phe Wild-type ABCB4 (A) or I541F missense mutant (B, C) were expressed in HepG2 cells. Login to comment 104 ABCB4 p.Ala546Asp The A546D mutation was shown to affect ABCB4 traffic [58]. Login to comment 105 ABCB4 p.Ile541Phe The I541F mutation led to improper folding, retention in the endoplasmic reticulum and premature degradation [59,60] (Fig. 2). Login to comment 106 ABCB4 p.Tyr403His ABCB4 p.Leu481Arg By contrast, the Y403H and L481R mutations did not alter membrane targeting but decreased ABCB4 activity [61]. Login to comment 108 ABCB4 p.Ser320Phe ABCB4 p.Ala953Asp The A286 V mutation was inactive, the S320F was fully active but its expression reduced to 50%, and the A953D mutation affected both the expression and the activity of ABCB4. Login to comment 127 ABCB4 p.Ile541Phe We recently showed that the ER-retained I541F missense mutant of ABCB4, identified in patients with PFIC3, was rescued by cyclosporin A treatment, while 4-phenylbutyrate had no effect [60] (Fig. 2). Login to comment