Results 51 to 60 of about 23,617 (228)

Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure [PDF]

, 2018
K
Balogh, István, Garbett, Krassimira A., Genaro-Mattos, Thiago C., Koczok, Katalin, Korade, Zeljka, Liu, Wei, Mirnics, Károly, Porter, Ned A., Tallman, Keri A.   +8 more
core   +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

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source

Vitamin D status and associated genetic polymorphisms in a cohort of UK children with non -alcoholic fatty liver disease [PDF]

, 2018
Background: Vitamin D deficiency has been associated with non-alcoholic fatty liver disease (NAFLD). However, the role of polymorphisms determining vitamin D status remains unknown.
Dhawan, A., Fitzpatrick, E., Gibson, P. S., Hart, K. H., Lanham-New, S., Moore, J.B., Quaglia, A., Wu, H.   +7 more
core   +4 more sources

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders [PDF]

, 2014
Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>
Benjamin Millar, Cornelius F Boerkoel, Cristina Dias, Kunho Choi, Lisa E Kratz, Marco Marra, Michelle Demos, Rosemarie Rupps   +7 more
core   +2 more sources

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