Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11

Hisamitsu Hayashi, Tappei Takada, Hiroshi Suzuki, Hidetaka Akita, Yuichi Sugiyama – 24 March 2005 – Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a mutation in the bile salt export pump (BSEP/ABCB11) gene. However, the mechanisms for the deficiency in the function of two mutations (E297G and D482G), which are frequently found in European patients, have not yet been identified. In the present study, we examined the transport activity and cellular localization of these two mutants in human embryonic kidney 293 and Madin‐Darby canine kidney II cells, respectively.

Abnormal concentrations of esterified carnitine in bile: A feature of pediatric acute liver failure with poor prognosis

Benjamin L. Shneider, Piero Rinaldo, Sukru Emre, John Bucuvalas, Robert Squires, Michael Narkewicz, Gabriel Gondolesi, Margret Magid, Raffaella Morotti, Linda S. Hynan – 24 March 2005 – The etiology of acute liver failure in children is unknown in a large number of cases. Defects in fatty acid oxidation have been shown to lead to severe liver injury. This retrospective analysis examined the bile acylcarnitine profiles of 27 children with acute liver failure who underwent liver transplantation or died.

Hepatitis C is a risk factor for death after liver retransplantation

Shawn J. Pelletier, Douglas E. Schaubel, Jeffrey D. Punch, Robert A. Wolfe, Friedrich K. Port, Robert M. Merion – 21 March 2005 – Retransplantation for liver allograft failure associated with hepatitis C virus (HCV) has been increasing due to nearly universal posttransplant HCV recurrence and has been demonstrated to be associated with poor outcomes. We report on the risk factors for death after retransplantation among liver recipients with HCV.

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