Article
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
Human mutation - 1 Jan 1998
Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier M T, Belli D C, Greten H, Schmitz G
Abstract excerpt
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 leave no residual enzymatic activity, while in CESD patients a residual LAL activity can be identified. We have...
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