Autophagy receptor defects and ALS-FTLD
Autophagy receptor defects and ALS-FTLD
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DOI：
10.1016/j.mcn.2015.01.002
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发表时间：
2015-05-01
影响因子：
3.5
通讯作者：
Layfield, Robert
中科院分区：
文献类型：
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作者：
Majcher, Veronika;Goode, Alice;Layfield, Robert
各种病理生理学机制已涉及神经退行性疾病的ALS-FTLD临床病理学谱。在这里，我们专注于自噬，细胞内分解代谢途径，在这些条件下的作用。越来越多的证据表明，ALS-FTLD中的自噬过程可能会受到干扰，包括影响自噬受体蛋白（ubiquilin-2，optineurin，SQSTM 1/p62）和调节因子（VCP）的基因突变。这种突变可能会损害自噬底物的清除，并产生病理学后果。最近的研究还发现了自噬和RNA加工之间的直接联系，支持连接几个ALS-FTLD相关基因产物的集成模型。这篇文章是题为“神经元蛋白”的特刊的一部分。(C)2015 Elsevier Inc. All rights reserved.
Various pathophysiological mechanisms have been implicated in the ALS-FTLD clinicopathological spectrum of neurodegenerative disorders. Here we focus on the role of autophagy, an intracellular catabolic pathway, in these conditions. Growing evidence suggests that the autophagic process can be disturbed in ALS-FTLD, including by genetic mutations affecting autophagy receptor proteins (ubiquilin-2, optineurin, SQSTM1/p62) and regulators (VCP). Such mutations may impair clearance of autophagy substrates with pathological consequences. Recent studies have also uncovered a direct connection between autophagy and RNA processing, supporting an integrated model connecting several ALS-FTLD associated gene products. This article is part of a Special Issue entitled 'Neuronal Protein'. (C) 2015 Elsevier Inc. All rights reserved.