Results 21 to 30 of about 5,760 (129)

A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family

Annals of Movement Disorders, 2022
Cerebrotendinous xanthomatosis is a rare and underreported lipid storage disorder caused by various mutations in the CYP27A1 gene. Here, we report a novel homozygous mutation in the CYP27A1 gene in an Indian family.
Shilpi Shukla, Harshad Chovatiya, Uzma Shamim, Mohammed Faruq, Soaham Desai   +4 more
doaj   +1 more source

Posttranslational modification by an isolevuglandin diminishes activity of the mitochondrial cytochrome P450 27A1[S]

Journal of Lipid Research, 2013
Posttranslational modification by isolevuglandins (isoLGs), arachidonate oxidation products, is an important yet understudied process associated with altered protein properties.
Casey D. Charvet, James Laird, Yunfeng Xu, Robert G. Salomon, Irina A. Pikuleva   +4 more
doaj   +1 more source

The Associations of Novel Vitamin D3 Metabolic Gene CYP27A1 Polymorphism, Adiponectin/Leptin Ratio, and Metabolic Syndrome in Middle-Aged Taiwanese Males

International Journal of Endocrinology, 2015
Metabolic syndrome (MetS) confers increased risks of cardiovascular disease (CVD). Both vitamin D3 and adipocytokines (especially adiponectin and leptin) have a great impact on CVD and MetS.
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
doaj   +1 more source

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

Journal of Lipid Research, 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
Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem   +7 more
doaj   +1 more source

TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1

Cell Death and Disease, 2023
Cholesterol metabolism plays a critical role in the progression of hepatocellular carcinoma (HCC), but it is not clear how cholesterol metabolism is regulated.
Xiaobo Wang, Jiawei Shi, Mingming Huang, Jiehong Chen, Jia Dan, Yunhua Tang, Zhiyong Guo, Xiaoshun He, Qiang Zhao   +8 more
doaj   +1 more source

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   +1 more source

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report

Egyptian Journal of Medical Human Genetics, 2023
Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzyme sterol 27-hydroxylase.
Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo, Bita Geramizadeh   +4 more
doaj   +1 more source

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   +1 more source

High CYP27A1 expression is a biomarker of favorable prognosis in premenopausal patients with estrogen receptor positive primary breast cancer

npj Breast Cancer, 2021
27-hydroxycholesterol (27HC), synthesized from cholesterol by the enzyme CYP27A1, differentially impacts estrogen receptor positive (ER+) breast cancer (BC) cell growth depending on estrogen levels.
Maria Inasu, Pär-Ola Bendahl, Mårten Fernö, Per Malmström, Signe Borgquist, Siker Kimbung   +5 more
doaj   +1 more source

Demethylation using the epigenetic modifier, 5-azacytidine, increases the efficiency of transient transfection of macrophages

Journal of Lipid Research, 2005
This study was aimed at developing a method for high-efficiency transient transfection of macrophages. Seven methods were evaluated for transient transfection of murine macrophage RAW 264.7 cells.
Geneviève Escher, Anh Hoang, Suzan Georges, Urbain Tchoua, Assam El-Osta, Zygmunt Krozowski, Dmitri Sviridov   +6 more
doaj   +1 more source