PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?

Liver InternationalVolume 30, Issue 6 p. 777-779 PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here? Meenakshisundaram Ananthanarayanan, Meenakshisundaram Ananthanarayanan Laboratory of Developmental and Molecular Hepatology, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USASearch for more papers by this authorYanfeng Li, Yanfeng Li Laboratory of Developmental and Molecular Hepatology, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USASearch for more papers by this author Meenakshisundaram Ananthanarayanan, Meenakshisundaram Ananthanarayanan Laboratory of Developmental and Molecular Hepatology, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USASearch for more papers by this authorYanfeng Li, Yanfeng Li Laboratory of Developmental and Molecular Hepatology, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USASearch for more papers by this author First published: 31 May 2010 https://doi.org/10.1111/j.1478-3231.2010.02227.xCitations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Nathanson MH, Boyer JL. Mechanisms and regulation of bile secretion. Hepatology 1991; 14: 551–66. 2 Trauner M, Boyer JL. Bile salt transporters: molecular characterization, function, and regulation. Physiol Rev 2003; 83: 633–71. 3 Trauner M, Meier PJ, Boyer JL. Molecular pathogenesis of cholestasis. N Engl J Med 1998; 339: 1217–27. 4 Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf DJ, Suchy FJ. Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor. J Biol Chem 2001; 276: 28857–65. 5 Denson LA, Sturm E, Echevarria W, et al. The orphan nuclear receptor, shp, mediates bile acid-induced inhibition of the rat bile acid transporter, ntcp. Gastroenterology 2001; 121: 140–7. 6 Mukhopadhyay S, Ananthanarayanan M, Stieger B, et al. Sodium taurocholate cotransporting polypeptide is a serine, threonine phosphoprotein and is dephosphorylated by cyclic adenosine monophosphate. Hepatology 1998; 28: 1629–36. 7 Liu LY, Wang ZL, Wang XH, Zhu QR, Wang JS. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. Liver Int. DOI: DOI: 10.1111/j.1478-3231.200902112.x. 8 Byrne JA, Strautnieks SS, Ihrke G, et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology 2009; 49: 553–67. 9 Chen HL, Chang PS, Hsu HC, et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 2002; 140: 119–24. 10 Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002; 110: 965–72. 11 Sultan M, Schulz MH, Richard H, et al. A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science 2008; 321: 956–60. 12 Huang Y, Lemieux MJ, Song J, Auer M, Wang DN. Structure and mechanism of the glycerol-3-phosphate transporter from Escherichia coli. Science 2003; 301: 616–20. 13 Sobolevsky AI, Rosconi MP, Gouaux E. X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor. Nature 2009; 462: 745–56. Citing Literature Volume30, Issue6July 2010Pages 777-779 ReferencesRelatedInformation