Results 11 to 20 of about 6,168 (166)

Liver histology in cholesteryl ester storage disease

Indian Journal of Pathology and Microbiology, 2018
Mukul Vij, Prashant Bachina
doaj   +2 more sources

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease. [PDF]

ACG Case Rep J
ABSTRACT Cholesteryl ester storage disease is a rare genetic disorder caused by mutations in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to abnormal accumulation of cholesteryl esters and triglycerides within lysosomes.
Lee A, Raasikh T, Bangaru S, Yano S, Chopra S, Saito T.   +5 more
europepmc   +3 more sources

Prevalence of Cholesteryl Ester Storage Disease [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Cholesteryl ester storage disease (CESD) is an autosomal recessive chronic liver disease caused by lysosomal acid lipase (LAL) deficiency. The gene is located on chromosome 10q23.2-q23.3, and the enzyme is essential for triglycerides and cholesteryl ester hydrolysis in lysosomes.
MUNTONI, SANDRO, HEIKO WIEBUSCH, MARIANNE JANSEN RUST, STEPHAN RUST, UDO SEEDORF, HELMUT SCHULTE, KLAUS BERGER, HARALD FUNKE, GERD ASSMANN   +8 more
openaire   +4 more sources

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

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. [PDF]

Curr Chem Genom Transl Med, 2017
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome.
Aguisanda F, Thorne N, Zheng W.
europepmc   +4 more sources

Enzyme deficiency in cholesteryl ester storage disease [PDF]

Journal of Clinical Investigation, 1972
Cholesteryl ester storage disease has been shown to involve severe deficiency of acid cholesteryl ester hydrolase and triglyceride lipase activity in liver, spleen, and lymph node. The cholesteryl ester hydrolase was also deficient in aorta. Tissue storage of both cholesteryl esters and triglycerides is generalized. Both the lipid and enzymatic changes
H R, Sloan, D S, Fredrickson
openaire   +2 more sources

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

Molecular Genetics and Metabolism Reports, 2022
Background: Lysosomal acid lipase deficiency (LAL-D) is a phenotypic continuum between the severe Wolman disease and the attenuated cholesteryl ester storage disease (CESD).
Xinying Hong, Yicheng Chen, Marianne Barr, Michael H. Gelb   +3 more
doaj   +1 more source

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Journal of Lipid Research, 2000
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase.
Peter Lohse, Sylke Maas, Pia Lohse, Milan Elleder, Jean M. Kirk, Guy T.N. Besley, Dietrich Seidel   +6 more
doaj   +1 more source

Role of cholesterol in regulating apolipoprotein B secretion by the liver

Journal of Lipid Research, 1996
The review examines the evidence that the supply of cholesterol available for incorporation into nascent lipoprotein particles exerts a regulatory influence on apolipoprotein (apo) B secretion by the liver.
G R Thompson, R P Naoumova, G F Watts
doaj   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

Molecular Genetics and Metabolism Reports, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in ...
Dominik Soll, Dominik Spira, Tim Hollstein, Linus Haberbosch, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Joachim Spranger, Ursula Kassner   +8 more
doaj   +1 more source