Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a

A massive intronic hexanucleotide repeat (GGGGCC) expansion in C9ORF72 is a genetic origin of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recently, C9ORF72, together with SMCR8 and WDR41, has been shown to regulate autophagy and function as Rab GEF. However, the precise fu...

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Bibliografski detalji
Izdano u:Proc Natl Acad Sci U S A
Glavni autori: Tang, Dan, Sheng, Jingwen, Xu, Liangting, Zhan, Xiechao, Liu, Jiaming, Jiang, Hui, Shu, Xiaoling, Liu, Xiaoyu, Zhang, Tizhong, Jiang, Lan, Zhou, Cuiyan, Li, Wenqi, Cheng, Wei, Li, Zhonghan, Wang, Kunjie, Lu, Kefeng, Yan, Chuangye, Qi, Shiqian
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2020
Teme:
Biological Sciences
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7211967/
https://ncbi.nlm.nih.gov/pubmed/32303654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2002110117
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