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Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase

✍ Scribed by Johanna E.M. Groener; Wim Bax; Cristiana Stuani; Franco Pagani


Book ID
117771932
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
189 KB
Volume
1487
Category
Article
ISSN
1388-1981

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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 lysosomes. WD is caused by genetic defects of LAL that