关键词: Aberrant protein aggregation Amyotrophic lateral sclerosis FUS Proteinopathy SOD1 TDP-43

Mesh : Amyotrophic Lateral Sclerosis / metabolism Humans Protein Aggregation, Pathological / metabolism Protein Aggregates / physiology Animals

来  源:   DOI:10.1007/s00415-024-12485-z

Abstract:
Amyotrophic lateral sclerosis (ALS) is a fatal disease. As its pathological mechanisms are not well understood, there are no efficient therapeutics for it at present. While it is highly heterogenous both etiologically and clinically, it has a common salient hallmark, i.e., aberrant protein aggregation (APA). The upstream pathogenesis and the downstream effects of APA in ALS are sophisticated and the investigation of this pathology would be of consequence for understanding ALS. In this paper, the pathomechanism of APA in ALS and the candidate treatment strategies for it are discussed.
摘要:
肌萎缩侧索硬化症(ALS)是一种致命的疾病。由于其病理机制尚不清楚,目前还没有有效的治疗方法。虽然它在病因和临床上都是高度异质性的,它有一个共同的显著标志,即,异常蛋白质聚集(APA)。ALS中APA的上游发病机理和下游作用是复杂的,对这种病理的研究对于理解ALS具有重要意义。在本文中,讨论了ALS中APA的发病机制及其候选治疗策略。
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