Results 71 to 80 of about 10,369 (237)

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

Hepatic bile acids and bile acid-related gene expression in pregnant and lactating rats [PDF]

, 2013
Background. Significant physiological changes occur during pregnancy and lactation. Intrahepatic cholestasis of pregnancy (ICP) is a liver disease closely related to disruption of bile acid homeostasis.
Dan Zhang, Hong M. Xie, Jie Liu, Qiong N. Zhu, Yuan F. Lu   +4 more
core   +1 more source

Localization of sterols and oxysterols in mouse brain reveals distinct spatial cholesterol metabolism [PDF]

, 2020
Dysregulated cholesterol metabolism is implicated in a number of neurological disorders. Many sterols, including cholesterol and its precursors and metabolites, are biologically active and important for proper brain function. However, spatial cholesterol
Angelini, Roberto, Baumert, Mark, Clench, Malcolm, Griffiths, William J., Howell, Owain W., Mast, Natalia, Newton, Jillian, Pikuleva, Irina, Skibinski, David O.F., Wang, Yuqin, Yutuc, Eylan   +10 more
core   +2 more sources

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

BMC Neurology, 2022
Background Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase.
S. Koyama, Yuma Okabe, Yuya Suzuki, R. Igari, Hiroyasu Sato, C. Iseki, K. Tanji, Kyoko Suzuki, Yasuyuki Ohta   +8 more
semanticscholar   +1 more source

Role of cytochrome P450 for vitamin D metabolisms in patients with neurodegenerative disorders

Clinical Parkinsonism & Related Disorders, 2022
Introduction: We previously reported lower serum 25-hydroxyvitamin D concentrations in patients with Alzheimer’s disease (AD), Parkinson’s disease (PD) and Multiple system atrophy (MSA) compared to healthy controls (HC), whereas 1,25-di-hydroxyvitamin D ...
Asako Kakimoto, Hiromu Ogura, Midori Suenaga, Takayasu Mishima, Shinsuke Fujioka, Shinji Ouma, Yoichi Matsunaga, Yoshio Tsuboi   +7 more
doaj   +1 more source

Gender Differences in Bile Acids and Microbiota in Relationship with Gender Dissimilarity in Steatosis Induced by Diet and FXR Inactivation. [PDF]

, 2017
This study aims to uncover how specific bacteria and bile acids (BAs) contribute to steatosis induced by diet and farnesoid X receptor (FXR) deficiency in both genders.
French, Samuel W, Gonzalez, Frank J, Jena, Prasant Kumar, Kalanetra, Karen M, Krishnan, Viswanathan V, Liu, Hui-Xin, Mills, David A, Sheng, Lili, Wan, Yu-Jui Yvonne   +8 more
core   +1 more source

Klotho and vitamin D in multiple sclerosis: an Italian study [PDF]

, 2020
Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental ...
Bruna Lo Sasso, Caterina Maria Gambino, Chiara Bellia, Concetta Scazzone, Giorgia Iacolino, Giulia Bivona, Giuseppe Salemi, Luisa Agnello, Marcello Ciaccio, Paolo Ragonese, Sabrina Realmuto   +10 more
core   +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

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

The Roles of Blood Lipid-Metabolism Genes in Immune Infiltration Could Promote the Development of IDD

Frontiers in Cell and Developmental Biology, 2022
Objectives: Intervertebral disc degeneration is a progressive and chronic disease, usually manifesting as low back pain. This study aimed to screen effective biomarkers for medical practice as well as figuring out immune infiltration situations between ...
Weihang Li, Ziyi Ding, Huan Zhang, Quan Shi, Quan Shi, Dong Wang, Dong Wang, Shilei Zhang, Songjie Xu, Bo Gao, Ming Yan   +10 more
doaj   +1 more source