Literature DB >> 5019788

Deficient activity of hepatic acid lipase in cholesterol ester storage disease.

J A Burke, W K Schubert.   

Abstract

Absence of lysosomal acid lipase activity in the liver is described in cholesterol ester storage disease and Wolman's disease. This enzyme deficiency may result in the excess hepatic cholesterol ester found in both conditions. However, clinical, genetic, and histopathologic differences suggest that the two conditions are separate diseases not completely explained by deficient enzyme activity.

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Year:  1972        PMID： 5019788     DOI： 10.1126/science.176.4032.309

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  17 in total

1.  The Saccharomyces cerevisiae YLL012/YEH1, YLR020/YEH2, and TGL1 genes encode a novel family of membrane-anchored lipases that are required for steryl ester hydrolysis.

Authors:  René Köffel; Rashi Tiwari; Laurent Falquet; Roger Schneiter
Journal:  Mol Cell Biol       Date:  2005-03       Impact factor: 4.272

2.  Inhibition of acid esterase in rat liver by 4,4'-diethylamino-ethoxyhexestrol.

Authors:  K Kasama; K Yoshida; S Takeda; R Tsujimura; S Hasegawa
Journal:  Lipids       Date:  1976-10       Impact factor: 1.880

Review 3.  Watch What You (Self-) Eat: Autophagic Mechanisms that Modulate Metabolism.

Authors:  Vikramjit Lahiri; Wayne D Hawkins; Daniel J Klionsky
Journal:  Cell Metab       Date:  2019-04-02       Impact factor: 27.287

4.  Thyroid hormones control lysosomal enzyme activities in liver and skeletal muscle.

Authors:  G N DeMartino; A L Goldberg
Journal:  Proc Natl Acad Sci U S A       Date:  1978-03       Impact factor: 11.205

5.  Effect of dietary cholesterol protected against ruminal hydrogenation on the plasma cholesterol and liver of sheep.

Authors:  J R Ashes; L J Cook; G S Sidhu
Journal:  Lipids       Date:  1984-03       Impact factor: 1.880

6.  Coordination of triacylglycerol and cholesterol homeostasis by DHR96 and the Drosophila LipA homolog magro.

Authors:  Matthew H Sieber; Carl S Thummel
Journal:  Cell Metab       Date:  2011-12-22       Impact factor: 27.287

7.  Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Authors:  Nathan O Stitziel; Sigrid W Fouchier; Barbara Sjouke; Gina M Peloso; Alessa M Moscoso; Paul L Auer; Anuj Goel; Bruna Gigante; Timothy A Barnes; Olle Melander; Marju Orho-Melander; Stefano Duga; Suthesh Sivapalaratnam; Majid Nikpay; Nicola Martinelli; Domenico Girelli; Rebecca D Jackson; Charles Kooperberg; Leslie A Lange; Diego Ardissino; Ruth McPherson; Martin Farrall; Hugh Watkins; Muredach P Reilly; Daniel J Rader; Ulf de Faire; Heribert Schunkert; Jeanette Erdmann; Nilesh J Samani; Lawrence Charnas; David Altshuler; Stacey Gabriel; John J P Kastelein; Joep C Defesche; Aart J Nederveen; Sekar Kathiresan; G Kees Hovingh
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-09-26       Impact factor: 8.311

8.  Separation and characterization of the acid lipase and neutral esterases from human liver.

Authors:  T G Warner; L M Dambach; J H Shin; J S O'Brien
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

9.  Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Authors:  J M Hoeg; S J Demosky; O H Pescovitz; H B Brewer
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

10.  Purification and characterization of a second form of acid lipase in human liver.

Authors:  E R Sjoberg; J D Hatton; J S O'Brien
Journal:  Biochem J       Date:  1987-11-15       Impact factor: 3.857
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