Article
MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.
Seminars in liver disease - 1 Feb 2007
Trauner Michael, Fickert Peter, Wagner Martin
Abstract excerpt
Because ATP-binding cassette (ABC) transporters are important for normal bile secretion, hereditary and acquired ABC transporter defects play a central role in the pathogenesis of cholestasis. Defects of the phospholipid export pump MDR3 ( ABCC4) result in impaired biliary excretion of phosphatidylcholine and a variety of cholestatic syndromes ranging from progressive familial intrahepatic cholestasis in neonates...
Topics
- ATP Binding Cassette Transporter, Subfamily B
- ATP-Binding Cassette Transporters
- Adult
- Animals
- Bile
- Biological Transport
- Cholestasis
- Genetic Therapy
- Humans
- Liver
- Liver Transplantation