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Article

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

Acta neuropathologica - 1 Oct 2014

Liu Elaine Y, Russ Jenny, Wu Kathryn, Neal Donald, Suh Eunran, McNally Anna G, Irwin David J, Van Deerlin Vivianna M, Lee Edward B

Abstract excerpt

Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated with reduced C9orf72 expression and the accumulation of potentially toxic RNA and protein aggregates. CpG methylation is known to protect the genome against unstable DNA elements and to stably silence inappropriate gene expression. Using...

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Identifiers

PMID: 24806409
DOI: 10.1007/s00401-014-1286-y
PMCID: PMC4161616

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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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