PMID: 20034695

Stapelbroek JM, van Erpecum KJ, Klomp LW, Houwen RH
Liver disease associated with canalicular transport defects: current and future therapies.
J Hepatol. 2010 Feb;52(2):258-71. Epub 2009 Nov 21., [PubMed]
Sentences
No. Mutations Sentence Comment
285 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 20034695:285:49
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 20034695:285:39
status: NEW
view ABCB11 p.Glu297Gly details
 4-PBA has been tested in vitro for the E297G and D482G mutations frequently found inABCB11deficiency.Treatmentreducedtheproteinubiquitination and increased the cell surface expression of mature ABCB11 [200- 202]. Login to comment 286 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 20034695:286:49
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 20034695:286:39
status: NEW
view ABCB11 p.Glu297Gly details
 4-PBA has been tested in vitro for the E297G and D482G mutations frequently found inABCB11deficiency.Treatmentreducedtheproteinubiquitination and increased the cell surface expression of mature ABCB11 [200-202]. Login to comment 287 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 20034695:287:49
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 20034695:287:39
status: NEW
view ABCB11 p.Glu297Gly details
 4-PBA has been tested in vitro for the E297G and D482G mutations frequently found inABCB11deficiency.Treatmentreducedtheproteinubiquitination and increased the cell surface expression of mature ABCB11 [200- 202]. Login to comment