Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
نویسندگان
چکیده
منابع مشابه
Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the sam...
متن کاملRecent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.
INTRODUCTION The bile salt export pump (BSEP/ABCB11), residing in the apical membrane of hepatocyte, mediates the secretion of bile salts into the bile. A range of human diseases is associated with the malfunction of BSEP, including fatal hereditary liver disorders and mild cholestatic conditions. Manifestation of these diseases primarily depends on the mutation type; however, other factors suc...
متن کاملAnalysis of the Bile Salt Export Pump (ABCB11) Interactome Employing Complementary Approaches
The bile salt export pump (BSEP, ABCB11) plays an essential role in the formation of bile. In hepatocytes, BSEP is localized within the apical (canalicular) membrane and a deficiency of canalicular BSEP function is associated with severe forms of cholestasis. Regulation of correct trafficking to the canalicular membrane and of activity is essential to ensure BSEP functionality and thus normal b...
متن کاملActivity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.
Mutations in ATP8B1 cause severe inherited liver disease. The disease is characterized by impaired biliary bile salt excretion (cholestasis), but the mechanism whereby impaired ATP8B1 function results in cholestasis is poorly understood. ATP8B1 is a type 4 P-type ATPase and is a flippase for phosphatidylserine. Atp8b1-deficient mice display a dramatic increase in the biliary extraction of chole...
متن کاملBile salt export pump (BSEP/ABCB11) can transport a nonbile acid substrate, pravastatin.
Pravastatin is a well known 3-hydroxy-3-methylglutaryl-CoA reductase inhibitor. Cumulative studies have shown that pravastatin is taken up into hepatocytes by the organic anion transporting polypeptide family transporters and excreted into the bile as an intact form by multidrug resistance-associated protein 2 (MRP2). It is generally accepted that the bile salt export pump (BSEP/ABCB11) mainly ...
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ژورنال
عنوان ژورنال: Gastroenterology
سال: 2008
ISSN: 0016-5085
DOI: 10.1053/j.gastro.2008.01.038