Results 181 to 190 of about 9,202 (195)

Novel sterols synthesized via the CYP27A1 metabolic pathway

Archives of Biochemistry and Biophysics, 2003
A major biologic role of the ubiquitous mitochondrial P450 enzyme CYP27A1 is the generation of ligands such as 27-hydroxycholesterol and 3 beta-hydroxy-5-cholestenoic acid, which regulate the expression of nuclear receptors that govern many aspects of cholesterol homeostasis.
Irina, Pikuleva, Norman B, Javitt
openaire   +2 more sources

Human CYP27A1 catalyzes hydroxylation of β-sitosterol and ergosterol

Biological Chemistry, 2016
Abstract β-Sitosterol and ergosterol are the equivalents of cholesterol in plants and fungi, respectively, and common sterols in the human diet. In the current work, both were identified as novel CYP27A1 substrates by in vitro experiments applying purified human CYP27A1 and its redox partners adrenodoxin (Adx) and adrenodoxin reductase ...
Maximilian, Ehrhardt, Adrian, Gerber, Josef, Zapp, Frank, Hannemann, Rita, Bernhardt   +4 more
openaire   +2 more sources

Mutation in CYP27A1 identified in family with coronary artery disease

European Journal of Medical Genetics, 2013
Coronary artery disease (CAD) is a leading cause of death worldwide. Myocardial infarction is the most severe outcome of CAD. Despite extensive efforts, the genetics of CAD is poorly understood. We aimed to identify the genetic cause of CAD in a pedigree with several affected individuals.
Kolsoum, Inanloorahatloo, Amir Farhang, Zand Parsa, Klaus, Huse, Paniz, Rasooli, Saeid, Davaran, Matthias, Platzer, Jian-Bing, Fan, Sasan, Amini, Frank, Steemers, Elahe, Elahi   +9 more
openaire   +2 more sources

Four novel CYP27A1 mutations in seven Italian patients with CTX

European Journal of Neurology, 2010
Background and purpose:  Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27‐hydroxylase deficiency. Clinical manifestations of CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and multiple progressive neurological dysfunctions.
Gallus, G. N., Dotti, Maria, Mignarri, A., Rufa, Alessandra, Da Pozzo, P., Cardaioli, E., Federico, Antonio   +6 more
openaire   +4 more sources

Metabolism of 25-hydroxyvitamin D3 by microsomal and mitochondrial vitamin D3 25-hydroxylases (CYP2D25 and CYP27A1): a novel reaction by CYP27A1

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2003
The metabolism of 25-hydroxyvitamin D(3) was studied with a crude mitochondrial cytochrome P450 extract from pig kidney and with recombinant human CYP27A1 (mitochondrial vitamin D(3) 25-hydroxylase) and porcine CYP2D25 (microsomal vitamin D(3) 25-hydroxylase).
Zufan, Araya, Fardin, Hosseinpour, Karl, Bodin, Kjell, Wikvall   +3 more
openaire   +2 more sources

Role of CYP27A1 in progesterone metabolism in vitro and in vivo

American Journal of Physiology-Endocrinology and Metabolism, 2009
In the kidney, progesterone is inactivated to 20α-dihydro-progesterone (20α-DH-progesterone) to protect the mineralocorticoid receptor from progesterone excess. In an attempt to clone the enzyme with 20α-hydroxysteroid activity using expression cloning in CHOP cells and a human kidney expression library, serendipitously cDNA encoding CYP27A1 was ...
Escher Geneviève, Vögeli Isabelle, Escher Robert, Tuckey Robert C, Erickson Sandra, Krozowski Zygmunt, Frey Felix J   +6 more
openaire   +2 more sources

Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene

European Journal of Medical Genetics, 2012
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical manifestations such as tendon xanthomas, cataracts, osteopenia ...
Sunghwan, Suh, Hee Kyung, Kim, Hyung-Doo, Park, Chang-Seok, Ki, Mi Yeon, Kim, Sang-Man, Jin, Se Won, Kim, Kyu Yeon, Hur, Kwang-Won, Kim, Jae Hyeon, Kim   +9 more
openaire   +2 more sources

Studies on sterol 27-hydroxylase (CYP27A1)

2004
Human sterol 27-hydroxylase (CYP27A1) has been studied in the present thesis with focus on substrate specificity and possible role of the enzyme for prevention of accumulation of cholesterol and cholestanol in tissues. Attempts have been made to evaluate a metabolic pathway to bile acids in human primary hepatocytes that starts with a 27-hydroxylation ...
openaire   +2 more sources

Glucocorticoid receptor-mediated upregulation of human CYP27A1, a potential anti-atherogenic enzyme

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2008
Sterol 27-hydroxylase (CYP27A1) is required for the hepatic conversion of cholesterol into bile acids and for production of 27-hydroxycholesterol which affects cholesterol homeostasis in several ways. Dexamethasone increases hepatic bile acid biosynthesis and CYP27A1-mediated enzyme activity in HepG2 cells.
Wanjin, Tang, Maria, Norlin, Kjell, Wikvall   +2 more
openaire   +2 more sources

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

International Journal of Neuroscience, 2020
Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX.Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried ...
Yi, Tang, Yanqiu, Liu, Dan, Li, Dongmei, Guo, Yi, Xing   +4 more
openaire   +2 more sources