Results 11 to 20 of about 9,389 (199)

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]

BMC Neurology, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj   +7 more sources

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis [PDF]

Orphanet Journal of Rare Diseases, 2010
Article abstract Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the ...
Garuti Rita, Vogel Hans-Peter, Lingesleben Alexandra, Schneider Hauke, Calandra Sebastiano   +4 more
doaj   +8 more sources

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature [PDF]

Frontiers in Pediatrics, 2021
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis.
Patryk Lipinski, Maja Klaudel-Dreszler, Elżbieta Ciara   +2 more
exaly   +4 more sources

Sterol 27-hydroxylase gene dosage and the antiatherosclerotic effect of Rifampicin in mice. [PDF]

Biosci Rep, 2018
Sterol 27-hydroxylase (CYP27A1) catalyzes the hydroxylation of cholesterol to 27-hydroxycholesterol (27-OHC) and regulates cholesterol homeostasis. In Cyp27a1/ Apolipoprotein E (ApoE) double knockout (KO) mice fed with Western diet (WD), the atherosclerotic phenotype found in ApoE KO mice was reversed.
Zurkinden L, Sviridov D, Vogt B, Escher G.   +3 more
europepmc   +8 more sources

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

Journal of Lipid Research, 1997
We report the characterization of eight mutations of sterol 27-hydroxylase gene (CYP27) in five Italian patients with cerebrotendinous xanthomatosis, who were found to be compound heterozygotes.
R Garuti, M A Croce, R Tiozzo, M T Dotti, A Federico, S Bertolini, S Calandra   +6 more
doaj   +7 more sources

Evidence for a role of sterol 27-hydroxylase in glucocorticoid metabolism in vivo [PDF]

Journal of Endocrinology, 2013
The intracellular availability of glucocorticoids is regulated by the enzymes 11β-hydroxysteroid dehydrogenase 1 (HSD11B1) and 11β-hydroxysteroid dehydrogenase 2 (HSD11B2). The activity of HSD11B1 is measured in the urine based on the (tetrahydrocortisol+5α-tetrahydrocortisol)/tetrahydrocortisone ((THF+5α-THF)/THE) ratio in humans and the ...
Vögeli, Isabelle, Jung, Hans H, Dick, Bernhard, Erickson, Sandra K, Escher, Robert, Funder, John W, Frey, Felix J, Escher, Geneviève   +7 more
openaire   +5 more sources

Sterol 27-hydroxylase: expression in human arterial endothelium

Journal of Lipid Research, 1997
Human endothelium obtained from both the aorta and the pulmonary artery has been evaluated for the presence of the messenger RNA coding for the expression of sterol 27-hydroxylase.
A B Reiss, K O Martin, D E Rojer, S Iyer, E A Grossi, A C Galloway, N B Javitt   +6 more
doaj   +3 more sources

Transcriptional regulation of hepatic sterol 27-hydroxylase by bile acids

American Journal of Physiology-Gastrointestinal and Liver Physiology, 1996
The study objective was to determine whether and to what extent sterol 27-hydroxylase, the initial step in the "acidic" pathway of bile acid biosynthesis, is regulated by bile acids. Rats were fed diets supplemented with cholestyramine (CT, 5%), cholate (CA, 1%), chenodeoxycholate (CDCA, 1%), or deoxycholate (DCA, 0.25%).
Z R, Vlahcevic, S K, Jairath, D M, Heuman, R T, Stravitz, P B, Hylemon, N G, Avadhani, W M, Pandak   +6 more
openaire   +3 more sources

Targeting Brain Cholesterol Homeostasis in Alzheimer's Disease: Mechanisms and Therapeutic Perspectives. [PDF]

J Neurochem
Brain cholesterol homeostasis is tightly regulated and largely independent of peripheral cholesterol. This review proposes a unifying framework in which aging, sex, and related biological stressors, including hypercholesterolemia, neurodegeneration, inflammation, and oxidative stress, converge to disrupt cholesterol homeostasis in the brain ...
Ruthirakuhan M, Taha AY, Swardfager W.
europepmc   +2 more sources

Sterol 27-Hydroxylase Acts on 7-Ketocholesterol in Human Atherosclerotic Lesions and Macrophages in Culture [PDF]

Journal of Biological Chemistry, 2000
27-Hydroxycholesterol (27OH) is the major oxysterol in human atherosclerotic lesions, followed by 7-ketocholesterol (7K). Whereas 7K probably originates nonenzymically, 27OH arises by the action of sterol 27-hydroxylase, a cytochrome P450 enzyme expressed at particularly high levels in the macrophage and proposed to represent an important pathway by ...
Brown, Andrew J., Watts, Gerald F., Burnett, John R., Dean, Roger T., Jessup, Wendy K.   +4 more
openaire   +4 more sources