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Article

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD.

Nature - 1 Sept 2020

Su Ming-Yuan, Fromm Simon A, Zoncu Roberto, Hurley James H

Abstract excerpt

Mutation of C9orf72 is the most prevalent defect associated with amyotrophic lateral sclerosis and frontotemporal degeneration1. Together with hexanucleotide-repeat expansion2,3, haploinsufficiency of C9orf72 contributes to neuronal dysfunction4-6. Here we determine the structure of the C9orf72-SMCR8-WDR41 complex by cryo-electron microscopy. C9orf72 and SMCR8 both contain longin and DENN (differentially...

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Identifiers

PMID: 32848248
DOI: 10.1038/s41586-020-2633-x
PMCID: PMC8054479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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