Autophagy and mitophagy in ALS.

Autophagy and mitophagy in ALS.
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DOI:
10.1016/j.nbd.2018.07.005
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发表时间:
2019-03
影响因子:
6.1
通讯作者:
Holzbaur ELF
Holzbaur ELF
中科院分区:
医学1区
文献类型:
--
作者:
Evans CS;Holzbaur ELF

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肌萎缩性侧索硬化症(ALS)是一种使人衰弱且无法治愈的疾病,涉及运动神经元的丧失和随后的肌肉萎缩。遗传学研究表明,自噬和/或线粒体自噬在疾病的发病中存在缺陷。在这里,我们回顾了我们对神经元自噬和线粒体自噬途径的理解的最新进展,以及这些途径如何受到DCTN 1,OPTN,TBK 1,VCP和C9 ORF 72等基因突变的影响。我们还讨论了在ALS中调节自噬的影响,强调了这种方法的潜力以及将这种途径作为神经退行性疾病的治疗策略所引起的担忧。
Amyotrophic lateral sclerosis (ALS) is a debilitating and incurable disease involving the loss of motor neurons and subsequent muscle atrophy. Genetic studies have implicated deficits in autophagy and/or mitophagy in the onset of the disease. Here we review recent progress in our understanding of the pathways for autophagy and mitophagy in neurons, and how these pathways may be affected by mutations in genes including DCTN1, OPTN, TBK1, VCP, and C9ORF72. We also discuss the implications of modulating autophagy in ALS, highlighting both the potential of the approach and the concerns raised by targeting this pathway as a therapeutic strategy in neurodegenerative disease.
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