Results 21 to 30 of about 18,706 (235)

LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots

Molecular Genetics and Metabolism Reports, 2022
Lysosomal acid lipase deficiency (LAL-D) (OMIM: 278000) is a lysosomal storage disorder with two distinct disease phenotypes such as Wolman disease and cholesteryl ester storage disorder (CESD), characterized by an accumulation of endocytosed cholesterol
Mari Ohira, Marianne Barr, Torayuki Okuyama, Ryuichi Mashima   +3 more
doaj   +1 more source

THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE

Медицинский совет, 2018
Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy.
S. A. Loskutova, T. V. Belousova, A. B. Nikulina   +2 more
doaj   +1 more source

Interaction of Tangier lipoproteins with cholesteryl ester-laden mouse peritoneal macrophages.

Journal of Lipid Research, 1986
Cholesterol efflux was studied from cholesteryl esterladen mouse peritoneal macrophages in the presence of Tangier lipoproteins derived from fasting and postprandial sera of three patients homozygous for Tangier disease (analphalipoproteinemia).
G Schmitz, G Assmann, B Brennhausen, H J Schaefer   +3 more
doaj   +1 more source

Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy.

Journal of Lipid Research, 1992
To better characterize the in vivo effects of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibition on human lipid metabolism, an adolescent male with cholesteryl ester storage disease (CESD) was treated chronically with lovastatin ...
R Levy, RE Ostlund, Jr, G Schonfeld, P Wong, CF Semenkovich   +4 more
doaj   +1 more source

Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease[S]

Journal of Lipid Research, 2020
Lysosomal acid lipase (LAL) is a serine hydrolase that hydrolyzes cholesteryl ester (CE) and TGs delivered to the lysosomes into free cholesterol and fatty acids.
Francis Rajamohan, Allan R. Reyes, Meihua Tu, Nicole L. Nedoma, Lise R. Hoth, Adam G. Schwaid, Ravi G. Kurumbail, Jessica Ward, Seungil Han   +8 more
doaj   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

Journal of Lipid Research, 1988
With the advent of nocturnal intragastric feeding which protects against acute metabolic complications and promotes growth, patients with glycogen storage disease type I are attracting less attention.
E Levy, L A Thibault, C C Roy, M Bendayan, G Lepage, J Letarte   +5 more
doaj   +1 more source

Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion

Hepatology, EarlyView., 2022
The role of SMLR1 in lipid metabolism (high fat + cholesterol diet in mice) Abstract Background and Aims The assembly and secretion of VLDL from the liver, a pathway that affects hepatic and plasma lipids, remains incompletely understood. We set out to identify players in the VLDL biogenesis pathway by identifying genes that are co‐expressed with the ...
Willemien van Zwol, Antoine Rimbert, Justina C. Wolters, Marieke Smit, Vincent W. Bloks, Niels J. Kloosterhuis, Nicolette C. A. Huijkman, Mirjam H. Koster, Umesh Tharehalli, Simon M. de Neck, Colin Bournez, Marceline M. Fuh, Jeroen Kuipers, Sujith Rajan, Alain de Bruin, Henry N. Ginsberg, Gerard J. P. van Westen, M. Mahmood Hussain, Ludger Scheja, Joerg Heeren, Philip Zimmerman, Bart van de Sluis, Jan Albert Kuivenhoven   +22 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

Annals of Hepatology, 2019
Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications.
Marlone Cunha-Silva, Daniel F.C. Mazo, Bárbara R. Corrêa, Tirzah M. Lopes, Raquel C. Arrelaro, Gabriel L. Ferreira, Marcello I. Rabello, Tiago Sevá-Pereira, Cecilia A.F. Escanhoela, Jazon R.S. Almeida   +9 more
doaj   +1 more source

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

The Turkish Journal of Pediatrics, 2020
Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA ...
Berrak Bilginer Gürbüz, İlker Güney, Fatma Derya Bulut, Okan Dilek   +3 more
doaj   +1 more source