« Previous
Next »
Journal of Hepatology
Volume 52, Issue 2
, Pages 258-271
, February 2010
Liver disease associated with canalicular transport defects: Current and future therapies
References
- . Structural insights into ABC transporter mechanism. Curr Opin Struct Biol. 2008;18:726–733
- . Mammalian ABC transporters in health and disease. Annu Rev Biochem. 2002;71:537–592
- A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998;18:219–224
- ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology. 2008;47:268–278
- . Drs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis. Mol Biol Cell. 2003;14:1240–1254
- Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology. 2001;34:768–775
- . ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology. 2009;136:1060–1069
- Enrichment of canalicular membrane with cholesterol and sphingomyelin prevents bile salt-induced hepatic damage. J Lipid Res. 1999;40:533–542
- Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006;44:195–204
- . Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem. 2009;
- ABC-transporters are localized in caveolin-1-positive and reggie-1-negative and reggie-2-negative microdomains of the canalicular membrane in rat hepatocytes. Hepatology. 2009;49:1673–1682
- Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997;26:155–164
- Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology. 2008;134:2091–2100
- Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004;40:27–38
- A missense mutation in FIC1 is associated with Greenland familial cholestasis. Hepatology. 2000;32:1337–1341
- . Byler-like familial cholestasis in an extended kindred. Arch Dis Child. 1996;75:223–227
- . Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child. 1969;117:112–124
- . Fatal familial cholestatic syndrome in Greenland Eskimo children. Acta Paediatr Scand. 1986;75:1010–1016
- . Benign recurrent intrahepatic cholestasis. A report of 26 cases. J Clin Gastroenterol. 1989;11:546–551
- . Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. Am J Med Genet. 1995;57:479–482
- . Benign recurrent intrahepatic “obstructive” jaundice. Lancet. 1959;2:686–690
- . Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology. 1999;29:506–508
- . FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis. 2001;21:535–544
- . Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol. 2002;36:439–443
- . Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr Dev Pathol. 2000;3:113–125
- FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol. 2001;35:436–443
- . Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice. Pediatr Res. 2004;56:981–987
- . FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Biochim Biophys Acta. 2003;1633:127–131
- ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci USA. 2009;
- FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr. 2002;140:119–124
- Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol. 2003;39:447–452
- . Byler’s syndrome. Arch Dis Child. 1997;77:276–277
- . Sensorineural hearing loss associated with Byler disease. Tohoku J Exp Med. 1999;187:83–88
- ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut. 2005;54:829–834
- Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet. 2005;13:435–439
- A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998;20:233–238
- Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008;134:1203–1214
- Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999;117:1370–1379
- . A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J Hepatol. 2006;44:240–242
- Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Eur J Gastroenterol Hepatol. 2007;19:942–946
- Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004;127:379–384
- . BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis. 2001;21:545–550
- The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem. 1998;273:10046–10050
- Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology. 2005;41:1160–1172
- Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006;44:478–486
- . Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr. 2007;150:556–559
- Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics. 2007;17:47–60
- Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut. 2009;58:537–544
- Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol. 2008;14:38–45
- Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics. 2004;14:91–102
- . Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2006;42:114–116
- Tissue distribution of the human MDR3 P-glycoprotein. Lab Invest. 1994;71:638–649
- The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett. 1994;354:263–266
- MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine. Cell. 1996;87:507–517
- Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA. 1998;95:282–287
- Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet. 2007;15:1230–1238
- A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology. 2008;48:1157–1166
- ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology. 2008;135:131–141
- Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet. 2000;9:1209–1217
- Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology. 2007;45:150–158
- Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther. 2006;23:1649–1653
- Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis. 2008;40:366–370
- . A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet. 2003;40:e32
- . Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet. 1999;353:210–211
- ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet. 2003;40:e70
- Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut. 2007;56:265–270
- Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007;44:453–458
- ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver Int. 2009;29:743–747
- . MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology. 2001;120:1459–1467
- . ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology. 2003;125:452–459
- . Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007;2:29
- A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology. 2003;124:1037–1042
- . Expression of multidrug resistance-associated protein 2 (MRP2) in normal human tissues and carcinomas using tissue microarrays. Histopathology. 2002;41:65–74
- Expression of the MRP2 gene-encoded conjugate export pump in human kidney proximal tubules and in renal cell carcinoma. J Am Soc Nephrol. 1999;10:1159–1169
- Transport of monoglucuronosyl and bisglucuronosyl bilirubin by recombinant human and rat multidrug resistance protein 2. Hepatology. 1999;30:485–490
- Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump. Biochim Biophys Acta. 2001;1511:7–16
- . Identification of a novel 974C
→
G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids. Am J Gastroenterol. 2006;101:2427–2432 - . Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore). 1954;33:155–197
- . Dubin-Johnson syndrome – a clinicopathologic study of twenty cases. Indian J Pathol Microbiol. 2006;49:500–504
- . The apical conjugate efflux pump ABCC2 (MRP2). Pflugers Arch. 2007;453:643–659
- . Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. BMC Gastroenterol. 2004;4:21
- Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest. 2002;110:659–669
- ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem. 2003;278:48275–48282
- Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000;290:1771–1775
- Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001;27:79–83
- . Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol Genet Metab. 2002;75:178–180
- Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Hum Mutat. 2002;20:151
- . Tuberous xanthomas in sitosterolemia. Pediatr Dermatol. 2000;17:447–449
- A 19-year-old man with myocardial infarction and sitosterolemia. Intern Med. 2003;42:591–594
- . Coronary bypass grafts in a young girl with sitosterolemia. Eur Heart J. 1996;17:965–966
- Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol. 2005;130:297–309
- . Liver transplantation in a patient with sitosterolemia and cirrhosis. Gastroenterology. 2006;130:542–547
- Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. J Lipid Res. 1990;31:881–888
- . Ursodeoxycholic acid ‘mechanisms of action and clinical use in hepatobiliary disorders’. J Hepatol. 2001;35:134–146
- . Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited. Hepatology. 2002;36:525–531
- Tauroursodeoxycholic acid inserts the apical conjugate export pump, Mrp2, into canalicular membranes and stimulates organic anion secretion by protein kinase C-dependent mechanisms in cholestatic rat liver. Hepatology. 2001;33:1206–1216
- . Effect of ursodeoxycholic acid on the expression of the hepatocellular bile acid transporters (Ntcp and bsep) in rats with estrogen-induced cholestasis. J Pediatr Gastroenterol Nutr. 2002;35:185–191
- Effects of ursodeoxycholic and cholic acid feeding on hepatocellular transporter expression in mouse liver. Gastroenterology. 2001;121:170–183
- Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans. Gastroenterology. 2005;129:476–485
- Novel biotransformation and physiological properties of norursodeoxycholic acid in humans. Hepatology. 2005;42:1391–1398
- . Therapy with ursodeoxycholic acid in cholestatic liver disease. Scand J Gastroenterol Suppl. 1993;200:15–20
- Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology. 1997;25:519–523
- The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001;120:1448–1458
- Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy. Acta Gastroenterol Belg. 2004;67:313–319
- Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology. 2000;119:188–195
- Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transplant. 1999;3:219–224
- Progressive familial intrahepatic cholestasis among the Arab population in Israel. J Pediatr Gastroenterol Nutr. 1997;24:548–554
- . Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 1994;18:134–141
- Partial internal biliary diversion through a cholecystojejunocolonic anastomosis – a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg. 2007;42:1337–1340
- Bile composition in alagille syndrome and PFIC patients having partial external biliary diversion. BMC Gastroenterol. 2008;8:47
- . Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation. 2007;84:1361–1363
- Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Gastroenterology. 2003;125:1227–1234
- . Use of rifampin for severe pruritus in children with chronic cholestasis. J Pediatr Gastroenterol Nutr. 1999;29:442–447
- . Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. Hepatology. 1991;13:1076–1083
- . Unexpected clinical remission of cholestasis after rifampicin therapy in patients with normal or slightly increased levels of gamma-glutamyl transpeptidase. Am J Gastroenterol. 1998;93:1510–1517
- . Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. Pediatr Surg Int. 2006;22:551–553
- . Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. J Perinat Med. 2002;30:185–187
- 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Gastroenterology. 2006;130:465–481
- . Stimulation of bile acid 6 alpha-hydroxylation by rifampin. J Hepatol. 1996;24:713–718
- . Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. Clin Pediatr (Phila). 1997;36:483–485
- . Effect of cholestyramine on bile acid metabolism in normal man. J Clin Invest. 1972;51:2781–2789
- Familial intrahepatic cholestasis associated with progressive neuromuscular disease and vitamin E deficiency. J Pediatr Gastroenterol Nutr. 1984;3:385–389
- . Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology. 1988;95:130–136
- . Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. Intern Med. 2008;47:599–602
- . Benign recurrent intrahepatic cholestasis in a Saudi child. Ann Trop Paediatr. 1999;19:215–217
- . Severe familial intrahepatic cholestasis. Arch Dis Child. 1973;48:806–812
- . The ‘forgotten’ bile acid sequestrants: is now a good time to remember?. Am J Ther. 2007;14:567–580
- . Response to diet and cholestyramine in a patient with sitosterolemia. Pediatrics. 1990;86:977–981
- . Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. J Lipid Res. 1991;32:1941–1948
- . Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. J Clin Invest. 1986;77:1864–1872
- Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J Lipid Res. 1985;26:203–209
- . Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father. Metabolism. 1996;45:673–679
- . Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. Eur J Gastroenterol Hepatol. 2005;17:585–588
- Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). Liver. 2002;22:72–75
- . Ileal exclusion for Byler’s disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg. 1998;33:220–224
- Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases. Surg Today. 2008;38:726–730
- . Selective surgical management of progressive familial intrahepatic cholestasis (Byler’s disease). J Pediatr Surg. 1995;30:1635–1641
- Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients. Am J Gastroenterol. 2000;95:3522–3528
- Long-term outcome after partial external biliary diversion for intractable pruritus in patients with intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2000;30:152–156
- Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 1999;28:217–219
- . Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg. 2008;43:1312–1320
- . Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. Surg Endosc. 2005;19:1641–1643
- . Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and alagille disease. J Pediatr Gastroenterol Nutr. 2009;
- Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg. 2003;13:307–311
- Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology. 2006;43:51–53
- Orthotopic liver transplantation for Byler disease. Transplantation. 1990;50:804–806
- Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant. 2007;11:634–640
- Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis. Transplant Proc. 2003;35:3003–3005
- Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transplant. 2006;10:570–574
- . Intractable diarrhea after liver transplantation for Byler’s disease: successful treatment with bile adsorptive resin. Liver Transpl. 2002;8:714–716
- . One hundred and thirty-seven living donor pediatric liver transplants at Riyadh Military Hospital. Results and outlook for future. Saudi Med J. 2009;30:403–408
- Bone mineral density and height gain in children with chronic cholestatic liver disease undergoing transplantation. Transplantation. 2002;73:1788–1793
- Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report. Pediatr Transplant. 2008;
- Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl. 2009;15:610–618
- . Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1
- . Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology. 2000;119:1720–1730
- Liver after hepatocyte transplantation for liver-based metabolic disorders in children. Cell Transplant. 2008;17:1403–1414
- . Hepatocyte transplantation for liver-based metabolic disorders. J Inherit Metab Dis. 2006;29:431–435
- . Coordinate transcriptional regulation of transport and metabolism. Methods Enzymol. 2005;400:511–530
- Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem. 2003;278:51085–51090
- Regulation of multidrug resistance-associated protein 2 (ABCC2) by the nuclear receptors pregnane X receptor, farnesoid X-activated receptor, and constitutive androstane receptor. J Biol Chem. 2002;277:2908–2915
- Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump. Hepatology. 2002;35:589–596
- . Nuclear receptors as therapeutic targets in cholestatic liver diseases. Br J Pharmacol. 2009;156:7–27
- Protective effects of 6-ethyl chenodeoxycholic acid, a farnesoid X receptor ligand, in estrogen-induced cholestasis. J Pharmacol Exp Ther. 2005;313:604–612
- . Altered localization and activity of canalicular Mrp2 in estradiol-17beta-d-glucuronide-induced cholestasis. Hepatology. 2002;35:1409–1419
- . Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. Gastroenterology. 2000;118:422–430
- Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology. 2006;43:1125–1134
- A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004;13:881–892
- Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet. 2004;13:2451–2460
- Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004;126:756–764
- The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology. 2008;48:1896–1905
- . FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells. J Gastroenterol. 2009;
- . Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. Am J Physiol Gastrointest Liver Physiol. 2009;296:G1119–G1129
- Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. Hepatol Res. 2007;37:548–556
- Fibrates induce mdr2 gene expression and biliary phospholipid secretion in the mouse. Biochem J. 1996;314:781–786
- . Study of effectiveness of bezafibrate in the treatment of chronic hepatitis C. Am J Gastroenterol. 2001;96:1659–1660
- . Investigation into the efficacy of bezafibrate against primary biliary cirrhosis, with histological references from cases receiving long term monotherapy. Am J Gastroenterol. 2002;97:212–214
- . Efficacy of bezafibrate in a patient with primary sclerosing cholangitis. J Gastroenterol. 2003;38:300–301
- . Bezafibrate in the treatment of primary biliary cirrhosis: comparison with ursodeoxycholic acid. Am J Gastroenterol. 2000;95:2990–2992
- A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2003;348:255–256
- . Mechanism of action of streptomycin in E. coli: interruption of the ribosome cycle at the initiation of protein synthesis. Proc Natl Acad Sci USA. 1968;60:873–880
- . Streptomycin preferentially perturbs ribosomal proofreading. Mol Gen Genet. 1984;198:100–104
- Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med. 2001;163:1683–1692
- Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med. 2003;349:1433–1441
- PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447:87–91
- Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol. 2007;47:430–444
- Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008;372:719–727
- . Role of quality control pathways in human diseases involving protein misfolding. Semin Cell Dev Biol. 2004;15:31–38
- . Increased fetal hemoglobin in patients receiving sodium 4-phenylbutyrate. N Engl J Med. 1992;327:569–570
- . Long-term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med. 1996;335:855–859
- . Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR. Am J Physiol Cell Physiol. 2000;278:C259–C267
- . Sodium 4-phenylbutyrate downregulates HSC70 expression by facilitating mRNA degradation. Am J Physiol Lung Cell Mol Physiol. 2001;281:L43–L51
- . Induction of HSP70 promotes DeltaF508 CFTR trafficking. Am J Physiol Lung Cell Mol Physiol. 2001;281:L58–L68
- . In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J Clin Invest. 1997;100:2457–2465
- . A pilot clinical trial of oral sodium 4-phenylbutyrate (buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med. 1998;157:484–490
- . Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. Mol Ther. 2002;6:119–126
- van der Velden LM, Stapelbroek JM, Krieger E, van den Berghe PV, Berger R, Verhulst PM, et al. Folding defects in ATP8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. Hepatology 2009 sep 4. [Epub ahead of print].
- . Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II. Hepatology. 2008;48:1558–1569
- A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology. 2008;
- . 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology. 2007;45:1506–1516
- . Short-chain ubiquitination is associated with the degradation rate of a cell-surface-resident bile salt export pump (BSEP/ABCB11). Mol Pharmacol. 2009;75:143–150
- . Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol. 2007;293:C1709–C1716
- . Splicing modulation as a modifier of the CFTR function. Prog Mol Subcell Biol. 2006;44:233–254
- . Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 2003;12:2031–2040
- . Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem. 2003;72:291–336
- Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep. 2004;5:1071–1077
- . Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping. Hum Mutat. 2009;30:22–28
- . Rational design of antisense oligomers to induce dystrophin exon skipping. Mol Ther. 2009;
- Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009;30:454–462
- . Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. Gastroenterology. 2006;130:1853–1857
- EASL clinical practice guidelines: management of cholestatic liver diseases. J Hepatol. 2009;51:237–267
PII: S0168-8278(09)00740-5
doi: 10.1016/j.jhep.2009.11.012
© 2009 European Association for the Study of the Liver. Published by Elsevier Inc. All rights reserved.
« Previous
Next »
Journal of Hepatology
Volume 52, Issue 2
, Pages 258-271
, February 2010
