Results 11 to 20 of about 5,510 (174)

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. [PDF]

PLoS ONE, 2012
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few ...
Frank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, Lude Franke, Ritsert C Jansen, Michael A van Es, Paul W J van Vught, Hylke M Blauw, Ewout J N Groen, Steve Horvath, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Andre G Uitterlinden, Wim Robberecht, Peter M Andersen, Judith Melki, Vincent Meininger, Orla Hardiman, John E Landers, Robert H Brown, Aleksey Shatunov, Christopher E Shaw, P Nigel Leigh, Ammar Al-Chalabi, Roel A Ophoff, Leonard H van den Berg, Jan H Veldink   +27 more
doaj   +12 more sources

Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1 [PDF]

Biochemical Journal, 2003
The mitochondrial sterol 27-hydroxylase (CYP27A1) is a multifunctional cytochrome P450 enzyme that catalyses important hydroxylations in the biosynthesis of bile acids and bioactivation of vitamin D3. Previous results [Babiker, Andersson, Lund, Xiu, Deeb, Reshef, Leitersdorf, Diczfalusy and Björkhem (1997) J. Biol. Chem.
Kjell Wikvall
exaly   +4 more sources

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +3 more sources

Effect of Cyp27A1 gene dosage on atherosclerosis development in ApoE-knockout mice.

FASEB J, 2014
In humans, sterol 27‐hydroxylase (CYP27A1) deficiency leads to cholesterol deposition in tendons and vasculature. Thus, in addition to its role in bile acid synthesis, where it converts cholesterol to 27‐hydroxycholesterol (27‐OHC), CYP27A1 may also be atheroprotective. Cyp27A1‐deficient ( Cyp27A1
Zurkinden L, Solcà C, Vögeli IA, Vogt B, Ackermann D, Erickson SK, Frey FJ, Sviridov D, Escher G.   +8 more
europepmc   +7 more sources

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. [PDF]

Intern Med, 2020
A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk without support. A neurological examination showed spasticity and sensory disturbance in the lower limbs.
Takasone K, Morizumi T, Nakamura K, Mochizuki Y, Yoshinaga T, Koyama S, Sekijima Y.   +6 more
europepmc   +4 more sources

Molecular cloning, expression analysis and functional characterization of chicken cytochrome P450 27A1: A novel mitochondrial vitamin D3 25-hydroxylase

Poultry Science, 2023
: Vitamin D3 is hydroxylated by cytochrome P450 (CYP) before exerting biological effects. The chicken CYP involved in vitamin D3 25-hydroxylation has yet to be cloned, and little is known about its functional characteristics, tissue distribution, and ...
S. Shang, Z. He, W. Hou, X. Chen, X. Zhao, H. Han, S. Chen, S. Yang, F. Tai   +8 more
doaj   +2 more sources

On the substrate specificity of human CYP27A1

Journal of Lipid Research, 2003
The mitochondrial sterol 27-hydroxylase (CYP27A1) is required for degradation of the C27-sterol side chain in bile acid biosynthesis. CYP27A1 seems, however, to have roles beyond this, as illustrated by patients with a deficient sterol 27-hydroxylase due
Maria Norlin, Sara von Bahr, Ingemar Björkhem, Kjell Wikvall   +3 more
doaj   +2 more sources

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

Journal of Clinical Lipidology, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare inherited disorder of the alternative pathway of bile acid biosynthesis, due to mutation(s) of the gene CYP27A1, leading to sterol 27-hydroxylase deficiency. The latter results in a systematic deposition of cholestanol and cholesterol to the central nervous system and tendons, premature cataract, as well ...
Christos Stenos, Konstantinos Kalafatakis, Pantelis Constantoulakis   +2 more
exaly   +3 more sources

The Associations of Novel Vitamin D₃Metabolic GeneCYP27A1Polymorphism, Adiponectin/Leptin Ratio, and Metabolic Syndrome in Middle-Aged Taiwanese Males [PDF]

International Journal of Endocrinology, 2015
Metabolic syndrome (MetS) confers increased risks of cardiovascular disease (CVD). Both vitamin D3and adipocytokines (especially adiponectin and leptin) have a great impact on CVD and MetS. In vitamin D3metabolism, the vitamin D325-hydroxylase (CYP27A1) and 25-hydroxyvitamin D31-alpha-hydroxylase (CYP27B1) are two key enzymes.
Kai-Hung Cheng, Edward Hsi, Chia-Chu Liu, Chun-Nung Huang, Yung-Chin Lee, Chih-Sheng Chu, Bo-Ying Bao, Chu-Fen Chang, Shu-Pin Huang, Po-Lin Kuo, Wen-Ter Lai   +10 more
openaire   +4 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   +2 more sources