Results 171 to 180 of about 2,600,769 (206)
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Lysosomal Acid Lipase as a Preproprotein
Journal of Biochemistry, 2004Lysosomal acid lipase (LAL; EC 3.1.1.13) hydrolyzes intracellular triglycerides and cholesterol esters taken up by various cell-types. Previously, LAL purified from human liver tissue was described as a preproprotein with a 27 amino acid signal peptide and a 49 amino acid propeptide.
Oliver, Zschenker +2 more
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Pediatric patients with lysosomal acid lipase deficiency
Revista Española de Patología, 2023Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly,
David A, Suarez-Zamora +4 more
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Reduction of Atherosclerotic Plaques by Lysosomal Acid Lipase Supplementation [PDF]
Arteriosclerosis, Thrombosis, and Vascular Biology, 2004 Objective— Proof of principle is presented for targeted enzyme supplementation by using lysosomal acid lipase to decrease aortic and coronary wall lipid accumulation in a mouse model of atherosclerosis.
Hong Du
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Molecular Genetics and Metabolism, 2014
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TG) and cholesteryl esters (CE) in lysosomes. Mutations of the LIPA gene lead to Wolman disease (WD) and cholesterol ester storage disease (CESD). The disease hallmarks include hepatosplenomegaly and extensive storage of CE and/or TG.
Ying Sun +10 more
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Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TG) and cholesteryl esters (CE) in lysosomes. Mutations of the LIPA gene lead to Wolman disease (WD) and cholesterol ester storage disease (CESD). The disease hallmarks include hepatosplenomegaly and extensive storage of CE and/or TG.
Ying Sun +10 more
openaire +2 more sources
Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency
American Journal of Cardiovascular Drugs, 2016Sebelipase alfa (Kanuma®, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive ...
exaly +3 more sources
Overexpression of Lysosomal Acid Lipase and Other Proteins in Atherosclerosis
The Journal of Biochemistry, 2006Atherosclerosis is one of the major causes of morbidity and mortality in the western world. The existing data of elevated expression levels of proteins like DNA damage and DNA repair enzymes in human atherosclerotic plaques are reviewed. From the literature, the effect of overexpression of different proteins using adenoviral vectors or the model of ...
Oliver, Zschenker +2 more
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Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency
New England Journal of Medicine, 2017An 18-year-old woman had elevated aminotransferase levels and a workup negative for infectious and autoimmune disease. Liver biopsy revealed birefringent cholesteryl ester crystals consistent with lysosomal acid lipase deficiency.
Vladimir, Ivashkin, Maria, Zharkova
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The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency
Journal of Pediatric Gastroenterology and Nutrition, 2016[No abstract available]
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Muscular involvement in lysosomal acid lipase deficiency in rats
Journal of the Neurological Sciences, 1992We investigated the pathological and biochemical changes of skeletal muscle in rats with lysosomal acid lipase deficiency, which is an animal counterpart of human Wolman's disease. In the affected rats, the acid lipase activity for three different substrates, 4-methylumbelliferyl-oleate (18.9% of the normal control level), [14C]cholesteryl oleate (23.5%
Y, Honda +5 more
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