The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure.

Q2 Biochemistry, Genetics and Molecular Biology
Lan Jiang, Tizhong Zhang, Kefeng Lu, Shiqian Qi
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引用次数: 5

Abstract

The hexanucleotide repeat (GGGGCC) expansion in C9orf72 is accounted for a large proportion of the genetic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The hypotheses of how the massive G4C2 repeats in C9orf72 destroy the neurons and lead to ALS/FTD are raised and improving. As a multirole player, C9orf72 exerts critical roles in many cellular processes, including autophagy, membrane trafficking, immune response, and so on. Notably, the partners of C9orf72, through which C9orf72 participates in the cell activities, have been identified. Notably, the structures of the C9orf72-SMCR8-WDR41 complex shed light on its activity as GTPase activating proteins (GAP). In this manuscript, we reviewed the latest research progress in the C9orf72-mediated ALS/FTD, the physiological functions of C9orf72, and the putative function models of C9orf72/C9orf72-containing complex.

Abstract Image

Abstract Image

C9orf72的研究进展:ALS/FTD的发病机制、功能和结构。
C9orf72中的六核苷酸重复序列(GGGGCC)扩增是遗传性肌萎缩性侧索硬化症(ALS)和额颞叶痴呆(FTD)的主要原因。关于C9orf72中大量G4C2重复是如何破坏神经元并导致ALS/FTD的假说被提出和改进。C9orf72作为一个多角色参与者,在细胞自噬、膜运输、免疫应答等许多细胞过程中发挥重要作用。值得注意的是,已经确定了C9orf72的合作伙伴,通过C9orf72参与细胞活动。值得注意的是,C9orf72-SMCR8-WDR41复合体的结构揭示了其作为GTPase激活蛋白(GAP)的活性。本文综述了C9orf72介导的ALS/FTD的最新研究进展、C9orf72的生理功能以及C9orf72/含C9orf72复合物的推测功能模型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Small GTPases
Small GTPases Biochemistry, Genetics and Molecular Biology-Biochemistry
CiteScore
6.10
自引率
0.00%
发文量
6
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