Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease

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 absence of LAL activity, Wolman patients accumulate pro...

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Hlavní autoři:	Oliver Zschenker, Nikola Jung, Julia Rethmeier, Sabine Trautwein, Stefanie Hertel, Marsha Zeigler, Detlev Ameis
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2001-07-01
Edice:	Journal of Lipid Research
Témata:	cholesterol metabolism lysosome site-directed mutagenesis expression cloning
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S0022227520315911
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