Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups

Stuart A. Scott, Benny Liu, Irina Nazarenko, Suparna Martis, Julia Kozlitina, Yao Yang, Charina Ramirez, Yumi Kasai, Tommy Hyatt, Inga Peter, Robert J. Desnick – 19 February 2013 – Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later‐onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) and the most common mutation associated with CESD is an exon 8 splice junction mutation (c.894G>A; E8SJM), which expresses only ∼3%‐5% of normally spliced LAL.

Taurolithocholate‐induced MRP2 retrieval involves MARCKS phosphorylation by protein kinase Cϵ in HUH‐NTCP Cells

Christopher M. Schonhoff, Cynthia R. L. Webster, M. Sawkat Anwer – 19 February 2013 – Taurolithocholate (TLC) acutely inhibits the biliary excretion of multidrug‐resistant associated protein 2 (Mrp2) substrates by inducing Mrp2 retrieval from the canalicular membrane, whereas cyclic adenosine monophosphate (cAMP) increases plasma membrane (PM)–MRP2. The effect of TLC may be mediated via protein kinase Cϵ (PKCϵ). Myristoylated alanine‐rich C kinase substrate (MARCKS) is a membrane‐bound F‐actin crosslinking protein and is phosphorylated by PKCs.

Interstrain differences in chronic hepatitis and tumor development in a murine model of inflammation‐mediated hepatocarcinogenesis

Tamara Potikha, Evgeniy Stoyanov, Orit Pappo, Antonina Frolov, Lina Mizrahi, Deborah Olam, Temima Shnitzer‐Perlman, Ido Weiss, Neta Barashi, Amnon Peled, Gabriele Sass, Gisa Tiegs, Francoise Poirier, Gabriel A. Rabinovich, Eithan Galun, Daniel Goldenberg – 19 February 2013 – Chronic inflammation is strongly associated with an increased risk for hepatocellular carcinoma (HCC) development.

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