Results 21 to 30 of about 2,722,655 (194)
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 +6 more
doaj +6 more sources
On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. [PDF]
J Lipid Res, 2010 The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. Mice with the same defect do not develop xanthomas. The driving force in the development of the xanthomas is likely to be conversion of a bile acid precursor into ...
Båvner A +8 more
europepmc +5 more sources
Expression and localization of sterol 27-hydroxylase (CYP27A1) in monkey retina. [PDF]
Exp Eye Res, 2006 Sterol 27-hydroxylase (CYP27A1) is a mitochondrial P-450 enzyme with broad substrate specificity for C27 sterols including 7-ketocholesterol (7kCh). CYP27A1 is widely expressed in human tissues but has not been previously demonstrated in the retina.
Lee JW +4 more
europepmc +4 more sources
Expression of Sterol 27-Hydroxylase (CYP27A1) Enhances Cholesterol Efflux [PDF]
Journal of Biological Chemistry, 2003 Cholesterol efflux from CHOP cells transfected with sterol 27-hydroxylase (CYP27A1) was compared with non-transfected and mock-transfected cells. Transfection caused expression of CYP27A1, formation of 27-hydroxycholesterol, and inhibition of cholesterol biosynthesis. Transfection enhanced cholesterol efflux to apolipoprotein A-I or human plasma by 2-3-
Genevieve, Escher +3 more
openaire +2 more sources
Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy [PDF]
QJM, 1996 We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than tenfold elevation in plasma cholestanol and combined ...
G F, Watts +4 more
openaire +2 more sources
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 +9 more
doaj +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 +5 more
doaj +1 more source
Journal of Lipid Research, 2000 A comprehensive study of cholesterol, bile acid, and lipoprotein metabolism was undertaken in two strains of hamster that differed markedly in their response to a sucrose-rich/low fat diet.
Jacqueline Férézou +10 more
doaj +1 more source
Journal of Lipid Research, 1993 Sterol 27-hydroxylase, the mitochondrial enzyme that catalyzes the first step in oxidation of the sterol side chain in hepatic bile acid synthesis, also catalyzes the synthesis of 27-hydroxycholesterol from cholesterol.
B Petrack, B J Latario
doaj +1 more source
Journal of Lipid Research, 2004 24S-hydroxycholesterol is a side-chain oxidized oxysterol formed in the brain that is continuously crossing the blood-brain barrier to reach the circulation. There may be an opposite flux of 27-hydroxycholesterol, which is formed to a lower extent in the
Maura Heverin +8 more
doaj +1 more source