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pro vyhledávání: '"Nikola Jung"'
Autor:
Oliver Zschenker, Nikola Jung, Julia Rethmeier, Sabine Trautwein, Stefanie Hertel, Marsha Zeigler, Detlev Ameis
Publikováno v:
Journal of Lipid Research, Vol 42, Iss 7, Pp 1033-1040 (2001)
Wolman disease results from an inherited deficiency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins. Because of a complete absen
Externí odkaz:
https://doaj.org/article/da29f3d16d5f4ea6bde4a5a499b7377e
Autor:
Julia Rethmeier, Sabine Trautwein, Nikola Jung, Oliver Zschenker, Stefanie Hertel, Detlev Ameis, Marsha Zeigler
Publikováno v:
Journal of Lipid Research, Vol 42, Iss 7, Pp 1033-1040 (2001)
Wolman disease results from an inherited defi- ciency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins. Because of a complete abs
Autor:
Christoph Gasche, Stefan Ries, Gerd Schmitz, Petra Fehringer, Heiner Greten, Charalampos Aslanidis, Nikola Jung, Christa Büchler, Dominique C. Belli, Detlev Ameis, Gisela Schindler, Axel Schambach, Marie T. Vanier
Publikováno v:
Human Mutation, Vol. 12, No 1 (1998) pp. 44-51
Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lyso