Results 1 to 10 of about 4,476 (134)

Biliary elimination of cholesterol can be modulated by hepatocyte mitochondrial Aquaporin-8 in mice [PDF]

Scientific Reports
Sterol regulatory element-binding protein (SREBP) transcription factors directly or indirectly regulate key genes involved in hepatic cholesterol homeostasis, including biliary elimination.
María Celeste Capitani, Alejo M. Capiglioni, Raúl A. Marinelli, Julieta Marrone   +3 more
doaj   +2 more sources

Genetic associations of cholelithiasis and biliary tract cancer [PDF]

Translational Oncology
Summary: Biliary tract cancer (BTC) is highly malignant and more prevalent in populations with cholelithiasis, but the underlying mechanisms remain unclear. This study aimed to investigate the potential genetic links between cholelithiasis and BTC.
Yong Jiang, Huimou Chen, Qing Tian, Chonghui Hu, Zhengyu Wu, Yuan Yuan, Xueliang Ouyang, Kunlong Chang, Daixin Wu, Juncheng Chen, Junwei Huang, Rufu Chen, Shangyou Zheng, Li Li   +13 more
doaj   +2 more sources

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turkish Journal of Hematology
Başak Bostankolu Değirmenci, Hamza Polat   +1 more
doaj   +2 more sources

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Frontiers in Genetics, 2021
To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing
Libin Deng, Libin Deng, Libin Deng, Jingsong Xu, Wei Chen, Shicheng Guo, Robert D. Steiner, Qi Chen, Zhujun Cheng, Yanmei Xu, Bei Yao, Xiaoyan Li, Xiaozhong Wang, Keyu Deng, Steven J. Schrodi, Dake Zhang, Hongbo Xin   +16 more
doaj   +1 more source

A reappraisal of the mechanism by which plant sterols promote neutral sterol loss in mice. [PDF]

PLoS ONE, 2011
Dietary plant sterols (PS) reduce serum total and LDL-cholesterol in hyperlipidemic animal models and in humans. This hypocholesterolemic effect is generally ascribed to inhibition of cholesterol absorption.
Gemma Brufau, Folkert Kuipers, Yuguang Lin, Elke A Trautwein, Albert K Groen   +4 more
doaj   +1 more source

Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine

BMC Gastroenterology, 2004
Background The molecular mechanisms that regulate the entry of dietary sterols into the body and their removal via hepatobiliary secretion are now beginning to be defined. These processes are specifically disrupted in the rare autosomal recessive disease,
Chavin Kenneth D, Adams David B, Lee Mi-Hye, Klett Eric L, Patel Shailendra B   +4 more
doaj   +1 more source

Hepatic ABCG5/G8 overexpression reduces apoB-lipoproteins and atherosclerosis when cholesterol absorption is inhibited

Journal of Lipid Research, 2007
We previously reported that liver-specific overexpression of ABCG5/G8 in mice is not atheroprotective, suggesting that increased biliary cholesterol secretion must be coupled with decreased intestinal cholesterol absorption to increase net sterol loss ...
Federica Basso, Lita A. Freeman, Carol Ko, Charles Joyce, Marcelo J. Amar, Robert D. Shamburek, Terese Tansey, Fairwell Thomas, Justina Wu, Beverly Paigen, Alan T. Remaley, Silvia Santamarina-Fojo, H. Bryan Brewer, Jr.   +12 more
doaj   +1 more source

The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter

Journal of Lipid Research, 2004
The ATP binding cassette (ABC) half-transporters ABCG5 and ABCG8 facilitate biliary and intestinal removal of neutral sterols. Here, we identify a binding site for the orphan nuclear receptor liver receptor homolog-1 (LRH-1) at nt 134–142 of the ABCG5 ...
Lita A. Freeman, Arion Kennedy, Justina Wu, Samantha Bark, Alan T. Remaley, Silvia Santamarina-Fojo, H. Bryan Brewer, Jr.   +6 more
doaj   +1 more source

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Frontiers in Cardiovascular Medicine, 2022
Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes.
Ming-fang Shen, Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Wei-xiang Chen, Li-sheng Liao, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +14 more
doaj   +1 more source

Data on structural analysis of cholesterol binding and sterol selectivity by ABCG5/G8

Data in Brief, 2022
ATP-Binding cassette subfamily G (ABCG) sterol transporters maintain whole body endogenous and exogenous sterol homeostasis. A substantial portion of exogenous sterols are undigestible phytosterols (plant sterols), which can introduce complications when ...
Danny Farhat, Fatemeh Rezaei, Jyh-Yeuan Lee   +2 more
doaj   +1 more source