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Article

Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes.

EMBO reports - 1 May 2024

Nelson Andrew T, Cicardi Maria Elena, Markandaiah Shashirekha S, Han John Ys, Philp Nancy J, Welebob Emily, Haeusler Aaron R, Pasinelli Piera, Manfredi Giovanni, Kawamata Hibiki, Trotti Davide

Abstract excerpt

The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia is a (GGGGCC)n nucleotide repeat expansion (NRE) occurring in the first intron of the C9orf72 gene (C9). Brain glucose hypometabolism is consistently observed in C9-NRE carriers, even at pre-symptomatic stages, but its role in disease pathogenesis is unknown. Here, we show alterations in glucose metabolic pathways...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38684907
DOI: 10.1038/s44319-024-00140-7
PMCID: PMC11094177

Genes

C9
RAN

Provenance

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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