@article{d865492a87404eff863b0a77a3a06f0c,
title = "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis",
abstract = "The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and γ- glutamyltranspeptidase (γGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) and 18q. The phenotype of the PFIC2-linked group is consistent with defective bile acid transport at the hepatocyte canalicular membrane. The PFIC2 gene has now been identified by mutations in a positional candidate, BSEP, which encodes a liver-specific ATP-binding cassette (ABC) transporter, sister of p-glycoprotein (SPGP). The product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro. These data provide evidence that SPGP is the human bile salt export pump (BSEP).",
author = "Strautnieks, {Sandra S.} and Bull, {Laura N.} and Knisely, {Alexander S.} and Kocoshis, {Samuel A.} and Niklas Dahl and Henrik Arnell and Etienne Sokal and Karine Dahan and Sarah Childs and Victor Ling and Tanner, {M. Stuart} and Kagalwalla, {Amir F.} and Antal N{\'e}meth and Joanna Pawlowska and Alastair Baker and Giorgina Mieli-Vergani and Freimer, {Nelson B.} and Gardiner, {R. Mark} and Thompson, {Richard J.}",
note = "Funding Information: This study was made possible by the cooperation of patients, their families and referring physicians, in particular: A. Dhawan, D. Herzog, R. Houwen, M. Ishitani, D. Kemmler, S. McDiarmid, P. McKeirnan, H. Mandel, M. Martin, B. Portmann, W. Rebhandl, C. Riely, H. Soriano, A. Urbania & P. Whitington. The authors are very grateful to many members of the Department of Paediatrics, UCL Medical School, for expert advice and assistance, in particular: J. Barclay, P. Munroe, M. Williamson, K. Parker and H. Mitchison. R.J.T. was a Wellcome Trust Medical Graduate Research Training Fellow. S.S.S. is funded by a Medical Research Council (UK) project grant. Additional funding was provided by the Children{\textquoteright}s Liver Disease Foundation. This work was also supported by a National Institutes of Health R01 grant (DK50697) to N.F. L.B. was supported by a postdoctoral National Research Service Award from the National Institutes of Mental Health and by a Young Investigator Award from the National Alliance for Research on Schizophrenia and Depression.",
year = "1998",
doi = "10.1038/3034",
language = "English (US)",
volume = "20",
pages = "233--238",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}