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Article

Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.

Journal of lipid research - 1 Jul 2001

Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D

Abstract excerpt

Wolman disease results from an inherited deficiency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins. Because of a complete absence of LAL activity, Wolman patients accumulate progressive amounts of cholesteryl esters and triacylglycerols in affected tissues. To investigate the nature of the...

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PMID: 11441129

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Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.PMID 11441129Read ↗

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.Semantic proximity Read ↗

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.Semantic proximity Read ↗

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.Semantic proximity Read ↗

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.Semantic proximity Read ↗

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.Semantic proximity Read ↗

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.Semantic proximity Read ↗

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.Semantic proximity Read ↗

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.Semantic proximity Read ↗

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.Semantic proximity Read ↗

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.Semantic proximity Read ↗

A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.Semantic proximity Read ↗

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.Semantic proximity Read ↗

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