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自噬/溶酶体降解途径的功能障碍是遗传突触核蛋白病的共同特征。

Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies.

机构信息

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

出版信息

FASEB J. 2013 Sep;27(9):3424-9. doi: 10.1096/fj.12-223842. Epub 2013 May 16.

Abstract

The past decade has witnessed huge advances in our understanding of the genetics underlying Parkinson's disease. Identifying commonalities in the biological function of genes linked to Parkinson's provides an opportunity to elucidate pathways that lead to neuronal degeneration and eventually to disease. We propose that the genetic forms of Parkinson's disease largely associated with α-synuclein-positive neuropathology (SNCA, LRRK2, and GBA) are brought together by involvement in the autophagy/lysosomal pathway and that this represents a unifying pathway to disease in these cases.

摘要

过去十年见证了我们对帕金森病遗传基础的理解的巨大进步。鉴定与帕金森病相关的基因的生物学功能的共性为阐明导致神经元变性并最终导致疾病的途径提供了机会。我们提出,与α-突触核蛋白阳性神经病理学(SNCA、LRRK2 和 GBA)主要相关的遗传形式的帕金森病通过参与自噬/溶酶体途径而聚集在一起,并且在这些情况下这代表了一种通向疾病的统一途径。

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Defective autophagy in Parkinson's disease: lessons from genetics.帕金森病中的自噬缺陷:遗传学的启示。
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引用本文的文献

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Gut Microbiota Approach-A New Strategy to Treat Parkinson's Disease.肠道微生物群方法——治疗帕金森病的新策略。
Front Cell Infect Microbiol. 2020 Oct 22;10:570658. doi: 10.3389/fcimb.2020.570658. eCollection 2020.

本文引用的文献

1
Parkin disease: a clinicopathologic entity?帕金森病:一种临床病理实体?
JAMA Neurol. 2013 May;70(5):571-9. doi: 10.1001/jamaneurol.2013.172.
2
Interplay of LRRK2 with chaperone-mediated autophagy.LRRK2 与伴侣蛋白介导的自噬相互作用。
Nat Neurosci. 2013 Apr;16(4):394-406. doi: 10.1038/nn.3350. Epub 2013 Mar 3.
9
The link between the GBA gene and parkinsonism.GBA 基因与帕金森病之间的联系。
Lancet Neurol. 2012 Nov;11(11):986-98. doi: 10.1016/S1474-4422(12)70190-4.

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