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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...

Deskribapen osoa

Gorde:
Egile Nagusiak: Oliver Zschenker, Nikola Jung, Julia Rethmeier, Sabine Trautwein, Stefanie Hertel, Marsha Zeigler, Detlev Ameis
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2001-07-01
Saila:Journal of Lipid Research
Gaiak:
cholesterol metabolism
lysosome
site-directed mutagenesis
expression cloning
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S0022227520315911
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