Results 31 to 40 of about 16,062 (239)

Disruption of the Sterol 27-Hydroxylase Gene in Mice Results in Hepatomegaly and Hypertriglyceridemia [PDF]

Journal of Biological Chemistry, 2000
Joyce J. Repa, Erik G. Lund, Jay D. Horton, Eran Leitersdorf, David W. Russell, John M. Dietschy, Stephen D. Turley   +6 more
openaire   +3 more sources

Localization of sterols and oxysterols in mouse brain reveals distinct spatial cholesterol metabolism [PDF]

, 2020
Dysregulated cholesterol metabolism is implicated in a number of neurological disorders. Many sterols, including cholesterol and its precursors and metabolites, are biologically active and important for proper brain function. However, spatial cholesterol
Angelini, Roberto, Baumert, Mark, Clench, Malcolm, Griffiths, William J., Howell, Owain W., Mast, Natalia, Newton, Jillian, Pikuleva, Irina, Skibinski, David O.F., Wang, Yuqin, Yutuc, Eylan   +10 more
core   +2 more sources

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis [PDF]

Human Genetics, 1997
We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.
Verrips, A., Steenbergen-Spanjers, G.C.H., Luyten, J.A.F.M., Wevers, R.A., Wokke, J.H.J., Gabreëls, F.J.M., Wolthers, B.G., Heuvel, L.P.W.J. van den   +7 more
openaire   +6 more sources

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 more
doaj   +1 more source

Genetic obesity increases pancreatic expression of mitochondrial proteins which regulate cholesterol efflux in BRIN-BD11 insulinoma cells [PDF]

, 2019
Pancreatic β-cells are sensitive to fluctuations in cholesterol content, which can damage the insulin secretion pathway, contributing to the aetiology of type 2 diabetes mellitus.
Caridis, Anna Maria, Dolan, Sharron, Graham, Annette, Lightbody, Richard J., Tarlton, Jamie M.R.   +4 more
core   +1 more source

Function annotation of hepatic retinoid x receptor α based on genome-wide DNA binding and transcriptome profiling. [PDF]

, 2012
BackgroundRetinoid x receptor α (RXRα) is abundantly expressed in the liver and is essential for the function of other nuclear receptors. Using chromatin immunoprecipitation sequencing and mRNA profiling data generated from wild type and RXRα-null mouse ...
Fang, Jianwen, Fang, Yaping, He, Yuqi, Liu, Hui-Xin, Wan, Yu-Jui Yvonne, Zhan, Qi   +5 more
core   +7 more sources

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

Regulation of classic and alternative bile acid synthesis in hypercholesterolemic rabbits: effects of cholesterol feeding and bile acid depletion

Journal of Lipid Research, 1998
The effect of cholesterol feeding (3 g/day) on bile acid synthesis was examined in 10 New Zealand white rabbits (NZW), 8 Watanabe heterozygous and 10 homozygous rabbits with partial and complete deficiencies of LDL receptors. After 10 days of cholesterol
Guorong Xu, Gerald Salen, Sarah Shefer, G. Stephen Tint, Lien B. Nguyen, Thomas T. Parker, Thomas S. Chen, Jeremy Roberts, Xianglin Kong, David Greenblatt   +9 more
doaj   +1 more source

Subverting sterols: rerouting an oxysterol-signaling pathway to promote tumor growth. [PDF]

, 2013
Oxysterols are oxidized derivatives of cholesterol that are generated enzymatically or through autoxidation. Initially identified as important lipid signaling molecules in the context of atherosclerosis and inflammation, accumulated evidence indicates ...
Bensinger, Steven J, York, Autumn G
core   +1 more source

Serum cholestenoic acid as a potential marker of pulmonary cholesterol homeostasis

Journal of Lipid Research, 2004
The conversion of cholesterol into the more polar metabolites 27-hydroxycholesterol (27-OH) and cholestenoic acid by the cytochrome P450 sterol 27-hydroxylase is a cholesterol-removal mechanism used by almost all cells.
Steve Meaney, Tracey L. Bonfield, Magnus Hansson, Amir Babiker, Mani S. Kavuru, Mary Jane Thomassen   +5 more
doaj   +1 more source