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Article

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.

Scientific reports - 1 Jan 2012

Fratta Pietro, Mizielinska Sarah, Nicoll Andrew J, Zloh Mire, Fisher Elizabeth M C, Parkinson Gary, Isaacs Adrian M

Abstract excerpt

Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). G-rich sequences have a propensity for forming highly stable quadruplex structures in both RNA and DNA termed G-quadruplexes. G-quadruplexes have been shown to be involved in a range of processes including telomere stability and...

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Identifiers

PMID: 23264878
DOI: 10.1038/srep01016
PMCID: PMC3527825

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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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