Results 31 to 40 of about 3,608 (158)

Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol Δ7-reductase in liver and mononuclear leukocytes

Journal of Lipid Research, 1998
Sitosterolemia is a recessively inherited disorder characterized by abnormally increased plasma and tissue plant sterol concentrations. Patients have markedly reduced whole body cholesterol biosynthesis associated with suppressed hepatic, ileal, and ...
Akira Honda, Gerald Salen, Lien B. Nguyen, G. Stephen Tint, Ashok K. Batta, Sarah Shefer   +5 more
doaj   +1 more source

Regulation of rat hepatic 3β-hydroxysterol Δ7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation

Journal of Lipid Research, 1998
The mechanism for the catalytic reduction of the double bond at C-7,8 in 7-dehydrocholesterol by 3β-hydroxysterol Δ7-reductase was investigated by testing structurally related sterols as substrates and potential inhibitors. The hepatic smooth endoplasmic
S. Shefer, G. Salen, A. Honda, A.K. Batta, L.B. Nguyen, G.S. Tint, Y.A. Ioannou, R. Desnick   +7 more
doaj   +1 more source

Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome [PDF]

Annals of Human Genetics, 2001
Smith–Lemli–Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7‐dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursor 7‐dehydrocholesterol in plasma and tissues. We here report
Jira, P.E., Wanders, R.J., Smeitink, J.A.M., Jong, J. de, Wevers, R.A., Oostheim, W., Tuerlings, J.H.A.M., Hennekam, R.C.M., Sengers, R.C.A., Waterham, H.R.   +9 more
openaire   +3 more sources

Identification and characterization of prescription drugs that change levels of 7-dehydrocholesterol and desmosterol

Journal of Lipid Research, 2018
Regulating blood cholesterol (Chol) levels by pharmacotherapy has successfully improved cardiovascular health. There is growing interest in the role of Chol precursors in the treatment of diseases.
Phillip A. Wages, Hye-Young H. Kim, Zeljka Korade, Ned A. Porter   +3 more
doaj   +1 more source

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

Journal of Lipid Research, 1995
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome characterized biochemically by low plasma cholesterol levels and high concentrations of the cholesterol precursor 7-dehydrocholesterol.
A Honda, G S Tint, G Salen, A K Batta, T S Chen, S Shefer   +5 more
doaj   +1 more source

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

Journal of Lipid Research, 2001
Infants with the cholesterol synthesis defect Smith-Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain.
Ingemar Björkhem, Lena Starck, Ulla Andersson, Dieter Lütjohann, Sara von Bahr, Irina Pikuleva, Amir Babiker, Ulf Diczfalusy   +7 more
doaj   +1 more source

Effect of long-term administration of AY-9944, an inhibitor of 7-dehydrocholesterol Δ7-reductase, on serum and tissue lipids in the rat

Journal of Lipid Research, 1968
The effect of long-term administration of AY-9944, a specific inhibitor of cholesterol biosynthesis, was examined in rats maintained on diets with low and high cholesterol and fat content.
D. Dvornik, P. Hill
doaj   +1 more source

Vitamin D3 suppresses the cholesterol homeostasis pathway in patient‐derived glioma cell lines

FEBS Open Bio, 2023
Glioblastoma is one of the most common malignant brain tumors. Vitamin D, primarily its hormonally active form calcitriol, has been reported to have anti‐cancer activity.
Ran Yuan, Wei Zhang, Yong‐Ping You, Gang Cui, Zhengliang Gao, Xiuxing Wang, Jian Chen   +6 more
doaj   +1 more source

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 1996
A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is described.
M Honda, G S Tint, A Honda, A K Batta, T S Chen, S Shefer, G Salen   +6 more
doaj   +1 more source

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome[S]

Journal of Lipid Research, 2010
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7).
Zeljka Korade, Libin Xu, Richard Shelton, Ned A. Porter   +3 more
doaj   +1 more source