Results 41 to 50 of about 9,315 (207)

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

Impact of 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol in breast cancer [PDF]

Endocrine-Related Cancer, 2017
The impact of systemic 27-hydroxycholesterol (27HC) and intratumoral CYP27A1 expression on pathobiology and clinical response to statins in breast cancer needs clarification. 27HC is an oxysterol produced from cholesterol by the monooxygenase CYP27A1, which regulates intracellular cholesterol homeostasis.
Siker, Kimbung, Ching-Yi, Chang, Pär-Ola, Bendahl, Laura, Dubois, J Will, Thompson, Donald P, McDonnell, Signe, Borgquist   +6 more
openaire   +2 more sources

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

Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]

, 2014
Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Balogh István, Harangi János, Harangi Mariann, Kapás István, Katkó Mónika, Kovács G. Gábor, Madar László, Molnár Mária Judit, Paragh György, Seres Ildikó, Varga Viktória Evelin   +10 more
core   +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

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]

JCEM Case Rep
Roy A, Roy SK, Das S.
europepmc   +2 more sources

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source