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

Author:

Rajamohan Francis,Reyes Allan R.,Ruangsiriluk Wanida,Hoth Lise R.,Han Seungil,Caspers Nicole,Tu Meihua,Ward Jessica,Kurumbail Ravi G.

Publisher

Elsevier BV

Subject

Biotechnology

Reference29 articles.

1. Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease;Goldstein;J. Biol. Chem.,1975

2. Regulation of plasma cholesterol by lipoprotein receptors;Brown;Science,1981

3. Human lysosomal acid lipase/cholesteryl ester hydrolase. Purification and properties of the form secreted by fibroblasts in microcarrier culture;Sando;J. Biol. Chem.,1985

4. The acid lipase gene family: three enzymes, one highly conserved gene structure;Lohse;J. Lipid Res.,1997

5. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3;Anderson;Genomics,1993

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