Article
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
Molecular genetics and metabolism - 1 Jun 1998
Du H, Sheriff S, Bezerra J, Leonova T, Grabowski G A
Abstract excerpt
Human lysosomal acid lipase (hLAL) is essential for the hydrolysis of cholesteryl esters and triglycerides in the lysosome. Defective hLAL activity leads to two autosomal recessive traits, Wolman disease (WD) or cholesteryl ester storage disease (CESD). Phenotypically, WD has accumulation of both triglycerides and cholesteryl esters, while CESD has mainly elevated cholesteryl esters. We characterized mutations in...
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