Article
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
Journal of lipid research - 1 Feb 1999
Lohse P, Maas S, Sewell A C, van Diggelen OP, Seidel D
Abstract excerpt
Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles. The key role of the enzyme in intracellular lipid homeostasis is illustrated by...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Cells, Cultured
- Cholesterol Ester Storage Disease
- Exons
- Female
- Fibroblasts
- Humans
- Infant
- Infant, Newborn
- Introns
- Mutagenesis, Site-Directed
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length