ABCB4: Insights from pathobiology into therapy
| Autor: | Thomas Falguières, Michèle Maurice, Chantal Housset, Tounsia Aït-Slimane |
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| Rok vydání: | 2014 |
| Předmět: |
Mutation
ATP Binding Cassette Transporter Subfamily B Hepatology Bile acid business.industry medicine.drug_class Gastroenterology Progressive familial intrahepatic cholestasis Transporter Disease ABCB4 medicine.disease_cause medicine.disease chemistry.chemical_compound chemistry Biochemistry Cancer research Animals Humans Medicine Secretion Deficiency Diseases business Adenosine triphosphate |
| Zdroj: | Clinics and Research in Hepatology and Gastroenterology. 38:557-563 |
| ISSN: | 2210-7401 |
| DOI: | 10.1016/j.clinre.2014.03.001 |
| Popis: | Adenosine triphosphate (ATP)-binding cassette, sub-family B, member 4 (ABCB4), also called multidrug resistance 3 (MDR3), is a member of the ATP-binding cassette transporter superfamily, which is localized at the canalicular membrane of hepatocytes, and mediates the translocation of phosphatidylcholine into bile. Phosphatidylcholine secretion is crucial to ensure solubilization of cholesterol into mixed micelles and to prevent bile acid toxicity towards hepatobiliary epithelia. Genetic defects of ABCB4 may cause progressive familial intrahepatic cholestasis type 3 (PFIC3), a rare autosomic recessive disease occurring early in childhood that may be lethal in the absence of liver transplantation, and other cholestatic or cholelithiasic diseases in heterozygous adults. Development of therapies for these conditions requires understanding of the biology of this transporter and how gene variations may cause disease. This review focuses on our current knowledge on the regulation of ABCB4 expression, trafficking and function, and presents recent advances in fundamental research with promising therapeutic perspectives. |
| Databáze: | OpenAIRE |
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