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Mutant PNPLA3 I148M protein as pharmacological target for liver disease.

作者信息

Valenti Luca, Dongiovanni Paola

机构信息

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Policlinico Milano, Milan, Italy.

出版信息

Hepatology. 2017 Oct;66(4):1026-1028. doi: 10.1002/hep.29298. Epub 2017 Aug 26.

DOI:10.1002/hep.29298
PMID:28586091
Abstract
摘要

相似文献

1
Mutant PNPLA3 I148M protein as pharmacological target for liver disease.突变型PNPLA3 I148M蛋白作为肝脏疾病的药理学靶点。
Hepatology. 2017 Oct;66(4):1026-1028. doi: 10.1002/hep.29298. Epub 2017 Aug 26.
2
The Genetic Variant I148M in PNPLA3 Is Associated With Increased Hepatic Retinyl-Palmitate Storage in Humans.载脂蛋白基因 I148M 变异与人类肝脏视黄醇棕榈酸酯蓄积相关。
J Clin Endocrinol Metab. 2015 Dec;100(12):E1568-74. doi: 10.1210/jc.2015-2978. Epub 2015 Oct 6.
3
The PNPLA3 I148M polymorphism is associated with insulin resistance and nonalcoholic fatty liver disease in a normoglycaemic population.载脂蛋白基因 PNPLA3 I148M 多态性与血糖正常人群的胰岛素抵抗和非酒精性脂肪性肝病相关。
Liver Int. 2011 Oct;31(9):1326-31. doi: 10.1111/j.1478-3231.2011.02526.x. Epub 2011 Apr 5.
4
Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liver steatosis in chronic hepatitis C.腹部脂肪与 PNPLA3 I148M 相互作用,但与慢性丙型肝炎肝脂肪变性发病机制中的 APOC3 变异体无关。
J Viral Hepat. 2013 Aug;20(8):517-23. doi: 10.1111/jvh.12053. Epub 2013 Jan 7.
5
Circulating triacylglycerol signatures in nonalcoholic fatty liver disease associated with the I148M variant in PNPLA3 and with obesity.非酒精性脂肪性肝病中与 PNPLA3 的 I148M 变异及肥胖相关的循环三酰甘油特征。
Diabetes. 2014 Jan;63(1):312-22. doi: 10.2337/db13-0774. Epub 2013 Sep 5.
6
Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insulin resistance.肝脂肪变性和PNPLA3 I148M变异与血清胎球蛋白-A相关,且独立于胰岛素抵抗。
Eur J Clin Invest. 2014 Jul;44(7):627-33. doi: 10.1111/eci.12280.
7
PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic characteristics and the role of the variant in nonalcoholic fatty liver fibrosis.非酒精性脂肪性肝病中的PNPLA3 I148M变异:人口统计学和种族特征以及该变异在非酒精性脂肪性肝纤维化中的作用
World J Gastroenterol. 2015 Jan 21;21(3):794-802. doi: 10.3748/wjg.v21.i3.794.
8
PNPLA3 is regulated by glucose in human hepatocytes, and its I148M mutant slows down triglyceride hydrolysis.载脂蛋白 L3 在人肝细胞中受葡萄糖调控,其 I148M 突变可减缓甘油三酯水解。
Am J Physiol Endocrinol Metab. 2012 May 15;302(9):E1063-9. doi: 10.1152/ajpendo.00125.2011. Epub 2012 Feb 14.
9
Association of the I148M/PNPLA3 (rs738409) polymorphism with premature coronary artery disease, fatty liver, and insulin resistance in type 2 diabetic patients and healthy controls. The GEA study.I148M/PNPLA3(rs738409)基因多态性与2型糖尿病患者及健康对照者的早发冠心病、脂肪肝和胰岛素抵抗的关联。GEA研究。
Immunobiology. 2017 Oct;222(10):960-966. doi: 10.1016/j.imbio.2016.08.008. Epub 2016 Sep 3.
10
Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function.重组PNPLA3蛋白具有甘油三酯水解酶活性,其I148M突变导致功能丧失。
Biochim Biophys Acta. 2014 Apr 4;1841(4):574-80. doi: 10.1016/j.bbalip.2013.12.006. Epub 2013 Dec 22.

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Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics.PNPLA3的十五年:通过人类遗传学改变肝病学
Liver Int. 2025 Sep;45(9):e70240. doi: 10.1111/liv.70240.
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A Scoping Review on Hepatoprotective Mechanism of Herbal Preparations through Gut Microbiota Modulation.通过调节肠道菌群对草药制剂肝脏保护机制的范围综述
Curr Issues Mol Biol. 2024 Oct 16;46(10):11460-11502. doi: 10.3390/cimb46100682.
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A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen Identifies Pathways to Potentially Reduce Steatosis in Metabolic Dysfunction-Associated Fatty Liver Disease.
一种 PNPLA3 缺陷的 iPSC 衍生肝细胞筛选模型可识别代谢相关脂肪性肝病脂肪变性潜在治疗靶点。
Int J Mol Sci. 2024 Jul 2;25(13):7277. doi: 10.3390/ijms25137277.
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The PNPLA family of enzymes: characterisation and biological role.PNPLA 酶家族:特性与生物学作用。
Arh Hig Rada Toksikol. 2023 Jun 26;74(2):75-89. doi: 10.2478/aiht-2023-74-3723. eCollection 2023 Jun 1.
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The I148M variant mitigates niacin beneficial effects: How the genetic screening in non-alcoholic fatty liver disease patients gains value.I148M变异减轻了烟酸的有益作用:非酒精性脂肪性肝病患者的基因筛查如何获得价值。
Front Nutr. 2023 Mar 2;10:1101341. doi: 10.3389/fnut.2023.1101341. eCollection 2023.
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Diagnostic and therapeutic strategies for non-alcoholic fatty liver disease.非酒精性脂肪性肝病的诊断与治疗策略
Front Pharmacol. 2022 Nov 2;13:973366. doi: 10.3389/fphar.2022.973366. eCollection 2022.
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Genetics, Immunity and Nutrition Boost the Switching from NASH to HCC.遗传学、免疫和营养促进非酒精性脂肪性肝炎向肝癌的转变。
Biomedicines. 2021 Oct 23;9(11):1524. doi: 10.3390/biomedicines9111524.
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Gene-Environmental Interactions as Metabolic Drivers of Nonalcoholic Steatohepatitis.基因-环境相互作用作为非酒精性脂肪性肝炎的代谢驱动因素。
Front Endocrinol (Lausanne). 2021 May 10;12:665987. doi: 10.3389/fendo.2021.665987. eCollection 2021.
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Genetic predisposition similarities between NASH and ASH: Identification of new therapeutic targets.非酒精性脂肪性肝炎(NASH)与酒精性脂肪性肝炎(ASH)之间的遗传易感性相似性:新治疗靶点的鉴定
JHEP Rep. 2021 Mar 30;3(3):100284. doi: 10.1016/j.jhepr.2021.100284. eCollection 2021 Jun.
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