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自噬与人类疾病:新出现的主题。

Autophagy and human disease: emerging themes.

作者信息

Schneider Jaime L, Cuervo Ana Maria

机构信息

Department of Developmental and Molecular Biology, Institute for Aging Studies, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

Department of Developmental and Molecular Biology, Institute for Aging Studies, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

出版信息

Curr Opin Genet Dev. 2014 Jun;26:16-23. doi: 10.1016/j.gde.2014.04.003. Epub 2014 Jun 5.

DOI:10.1016/j.gde.2014.04.003
PMID:24907664
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4253630/
Abstract

Malfunction of autophagy, the process that mediates breakdown and recycling of intracellular components in lysosomes, has been linked to a variety of human diseases. As the number of pathologies associated with defective autophagy increases, emphasis has switched from the mere description of the status of autophagy in these conditions to a more mechanistic dissection of the autophagic changes. Understanding the reasons behind the autophagic defect, the immediate consequences of the autophagic compromise and how autophagy changes with the evolution of the disease has become a 'must,' especially now that manipulation of autophagy is being considered as a therapeutic strategy. Here, we comment on some of the common themes that have emerged from such detailed analyses of the interplay between autophagy and disease conditions.

摘要

自噬是介导细胞内成分在溶酶体中分解和再循环的过程,其功能失调与多种人类疾病有关。随着与自噬缺陷相关的病理状况数量的增加,重点已从仅仅描述这些情况下的自噬状态转向对自噬变化进行更具机制性的剖析。了解自噬缺陷背后的原因、自噬受损的直接后果以及自噬如何随疾病进展而变化已成为“必需”,尤其是现在自噬调控正被视为一种治疗策略。在此,我们对自噬与疾病状况之间相互作用的详细分析中出现的一些共同主题进行评论。

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Autophagy and human disease: emerging themes.自噬与人类疾病:新出现的主题。
Curr Opin Genet Dev. 2014 Jun;26:16-23. doi: 10.1016/j.gde.2014.04.003. Epub 2014 Jun 5.
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Lysosomal storage diseases as disorders of autophagy.溶酶体贮积病——作为自噬障碍性疾病
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Neurodegenerative lysosomal disorders: a continuum from development to late age.神经退行性溶酶体疾病:从发育到老年的连续过程。
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Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.UNC13D 缺陷通过 TFEB 导致内溶酶体运输缺陷和自噬增强的交叉调控。
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本文引用的文献

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Connexins modulate autophagosome biogenesis.连接蛋白调节自噬体生物发生。
Nat Cell Biol. 2014 May;16(5):401-14. doi: 10.1038/ncb2934. Epub 2014 Apr 6.
2
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.SQSTM1 突变——连接骨 Paget 病和 ALS/FTLD。
Exp Cell Res. 2014 Jul 1;325(1):27-37. doi: 10.1016/j.yexcr.2014.01.020. Epub 2014 Jan 30.
3
p53 status determines the role of autophagy in pancreatic tumour development.p53 状态决定了自噬在胰腺肿瘤发展中的作用。
Anim Cells Syst (Seoul). 2025 May 6;29(1):296-311. doi: 10.1080/19768354.2025.2498926. eCollection 2025.
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Autophagy related genes polymorphisms in Parkinson's Disease; A systematic review of literature.帕金森病中自噬相关基因多态性;文献系统综述
Clin Park Relat Disord. 2025 Feb 24;12:100312. doi: 10.1016/j.prdoa.2025.100312. eCollection 2025.
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Aging, cancer, and autophagy: connections and therapeutic perspectives.衰老、癌症与自噬:关联及治疗前景
Front Mol Biosci. 2025 Jan 28;11:1516789. doi: 10.3389/fmolb.2024.1516789. eCollection 2024.
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GNL3L promotes autophagy via regulating AMPK signaling in esophageal cancer cells.GNL3L 通过调节 AMPK 信号通路促进食管癌细胞自噬。
Med Oncol. 2023 Dec 26;41(1):29. doi: 10.1007/s12032-023-02270-9.
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Autophagy gene expression in skeletal muscle of older individuals is associated with physical performance, muscle volume and mitochondrial function in the Study of Muscle, Mobility and Aging (SOMMA).在肌肉、运动与衰老研究(SOMMA)中,老年人骨骼肌中的自噬基因表达与身体机能、肌肉量和线粒体功能相关。
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Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease.上调伴侣介导的自噬可能在亨廷顿病中降低癌症发病率方面发挥关键作用。
J Huntingtons Dis. 2023;12(4):371-376. doi: 10.3233/JHD-230586.
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Autophagy in Parkinson's Disease.帕金森病中的自噬作用。
Biomolecules. 2023 Sep 22;13(10):1435. doi: 10.3390/biom13101435.
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EnsembleDL-ATG: Identifying autophagy proteins by integrating their sequence and evolutionary information using an ensemble deep learning framework.集成深度学习自噬蛋白识别方法(EnsembleDL-ATG):使用集成深度学习框架整合自噬蛋白的序列和进化信息来识别自噬蛋白。
Comput Struct Biotechnol J. 2023 Sep 29;21:4836-4848. doi: 10.1016/j.csbj.2023.09.036. eCollection 2023.
Nature. 2013 Dec 12;504(7479):296-300. doi: 10.1038/nature12865. Epub 2013 Dec 4.
4
Liver autophagy: much more than just taking out the trash.肝脏自噬:远不止于清除垃圾。
Nat Rev Gastroenterol Hepatol. 2014 Mar;11(3):187-200. doi: 10.1038/nrgastro.2013.211. Epub 2013 Nov 5.
5
Functional interaction between autophagy and ciliogenesis.自噬与纤毛发生的功能相互作用。
Nature. 2013 Oct 10;502(7470):194-200. doi: 10.1038/nature12639. Epub 2013 Oct 2.
6
Myocardial glycophagy - a specific glycogen handling response to metabolic stress is accentuated in the female heart.心肌糖异生 - 一种对代谢应激的特定糖原处理反应在女性心脏中更为明显。
J Mol Cell Cardiol. 2013 Dec;65:67-75. doi: 10.1016/j.yjmcc.2013.09.014. Epub 2013 Sep 29.
7
Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target.恢复帕金森病中受损的蛋白质代谢——TFEB介导的自噬作为一种新的治疗靶点。
Mov Disord. 2013 Sep;28(10):1346. doi: 10.1002/mds.25601.
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The role of autophagy in neurodegenerative disease.自噬在神经退行性疾病中的作用。
Nat Med. 2013 Aug;19(8):983-97. doi: 10.1038/nm.3232. Epub 2013 Aug 6.
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Inflamm Bowel Dis. 2013 Oct;19(11):2295-301. doi: 10.1097/MIB.0b013e31829e71cf.