Results 1 to 10 of about 16,023 (200)

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   +11 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   +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   +6 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   +4 more sources

Sterol 27-hydroxylase: high levels of activity in vascular endothelium.

Journal of Lipid Research, 1994
Sterol 27-hydroxylase activity in bovine aortic endothelial (BAE) cells in culture has been compared with that in HepG2 cells and in Chinese hamster ovary (CHO) cells using identical culture conditions. The total enzyme activity of BAE cells (3.0 nmol/72
A B Reiss, K O Martin, N B Javitt, D W Martin, E A Grossi, A C Galloway   +5 more
doaj   +4 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, Fuda H, Javitt NB, Strott CA, Rodriguez IR.   +4 more
europepmc   +6 more sources

Bile Acid Homeostasis in a Cholesterol 7α-Hydroxylase and Sterol 27-Hydroxylase Double Knockout Mouse Model. [PDF]

Hepatology, 2019
Bile acids (BAs) are diverse molecules that are synthesized from cholesterol in the liver. The synthesis of BAs has traditionally been shown to occur through two pathways. Cholesterol 7α‐hydroxylase (CYP7A1) performs the initial and rate‐limiting step in the classical pathway, and sterol 27‐hydroxylase (CYP27A1) initiates the hydroxylation of ...
Rizzolo D, Buckley K, Kong B, Zhan L, Shen J, Stofan M, Brinker A, Goedken M, Buckley B, Guo GL.   +9 more
europepmc   +6 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

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 Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska   +8 more
doaj   +2 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, Zygmunt, Krozowski, Kevin D, Croft, Dmitri, Sviridov   +3 more
openaire   +3 more sources