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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 5 May 2020

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

Abstract excerpt

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 function of C9ORF72 remains unclear. Here, we report the cryogenic electron microscopy (cryo-EM) structure of the...

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Identifiers

PMID: 32303654
DOI: 10.1073/pnas.2002110117
PMCID: PMC7211967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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