Article
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
Human molecular genetics - 1 Sept 1998
Du H, Duanmu M, Witte D, Grabowski G A
Abstract excerpt
Lysosomal acid lipase (LAL) is essential for the hydrolysis of the triglycerides and cholesteryl esters in lysosomes. Its deficiency produces two phenotypes, a severe infantile-onset variant, Wolman disease (WD), and a later onset variant, cholesteryl ester storage disease (CESD). A mouse model with a LAL null mutation was produced by targeting disruption of the mouse gene. Homozygote knockout mice (lal -/lal-)...
Topics
- Animals
- Base Sequence
- Cholesterol Ester Storage Disease
- DNA Primers
- Disease Models, Animal
- Female
- Gene Targeting
- Humans
- Infant
- Lipase
- Liver
- Lysosomes
- Male
- Mice
- Mice, Knockout
- Phenotype
- Spleen
- Triglycerides