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NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.

作者信息

Jansen Jos C, Wolthuis David, Van Scherpenzeel Monique, Ratziu Vlad, Drenth Joost P H, Lefeber Dirk J

机构信息

Department of Gastroenterology and Hepatology, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, GA Nijmegen, The Netherlands.

Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, HB Nijmegen, The Netherlands.

出版信息

Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar.

DOI:10.1016/j.jcmgh.2017.12.011
PMID:29675453
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5904036/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a058/5904036/690835d0f161/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a058/5904036/690835d0f161/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a058/5904036/690835d0f161/fx1.jpg

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本文引用的文献

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Architecture of the human interactome defines protein communities and disease networks.人类相互作用组的架构定义了蛋白质群落和疾病网络。
Nature. 2017 May 25;545(7655):505-509. doi: 10.1038/nature22366. Epub 2017 May 17.
2
The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.液泡型ATP酶复合物及组装因子TMEM199和CCDC115通过调节细胞铁水平来控制低氧诱导因子1α（HIF1α）脯氨酰羟化。
Elife. 2017 Mar 15;6:e22693. doi: 10.7554/eLife.22693.
3
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
ATP6AP1 缺陷导致免疫缺陷伴肝病变、认知障碍和蛋白质糖基化异常。
Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.
4
EASL-EASD-EASO Clinical Practice Guidelines for the management of non-alcoholic fatty liver disease.欧洲肝脏研究学会-欧洲糖尿病研究学会-欧洲肥胖症研究学会非酒精性脂肪性肝病管理临床实践指南
J Hepatol. 2016 Jun;64(6):1388-402. doi: 10.1016/j.jhep.2015.11.004. Epub 2016 Apr 7.
5
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.CCDC115基因缺陷导致高尔基体稳态紊乱及蛋白质糖基化异常。
Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.
6
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.跨膜蛋白199缺陷是一种高尔基体稳态紊乱疾病，其特征为转氨酶、碱性磷酸酶和胆固醇升高以及糖基化异常。
Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.
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Solving glycosylation disorders: fundamental approaches reveal complicated pathways.解决糖基化紊乱：基础方法揭示复杂途径。
Am J Hum Genet. 2014 Feb 6;94(2):161-75. doi: 10.1016/j.ajhg.2013.10.024.
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Science. 2014 Jan 3;343(6166):1235681. doi: 10.1126/science.1235681.
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Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease.先天性糖基化紊乱在肝脏病学中的研究进展：以多囊肝病为例。
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