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Article

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Autophagy - 2 Aug 2016

Ciura Sorana, Sellier Chantal, Campanari Maria-Letizia, Charlet-Berguerand Nicolas, Kabashi Edor

Abstract excerpt

The most common genetic cause for amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) is repeat expansion of a hexanucleotide sequence (GGGGCC) within the C9orf72 genomic sequence. To elucidate the functional role of C9orf72 in disease pathogenesis, we identified certain molecular interactors of this factor. We determined that C9orf72 exists in a complex with SMCR8 and WDR41 and that this complex...

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Identifiers

PMID: 27245636
DOI: 10.1080/15548627.2016.1189070
PMCID: PMC4968221

Genes

ATXN2
SMCR8
SQSTM1
TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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