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C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Experimental neurology - 1 Mar 2016

Esanov Rustam, Belle Kinsley C, van Blitterswijk Marka, Belzil Veronique V, Rademakers Rosa, Dickson Dennis W, Petrucelli Leonard, Boylan Kevin B, Dykxhoorn Derek M, Wuu Joanne, Benatar Michael, Wahlestedt Claes, Zeier Zane

Abstract excerpt

Among several genetic mutations known to cause amyotrophic lateral sclerosis (ALS), a hexanucleotide repeat expansion in the C9orf72 gene is the most common. In approximately 30% of C9orf72-ALS cases, 5-methylcytosine (5mC) levels within the C9orf72 promoter are increased, resulting in a modestly attenuated phenotype. The developmental timing of C9orf72 promoter hypermethylation and the reason why it occurs in...

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Identifiers

PMID: 26746986
DOI: 10.1016/j.expneurol.2015.12.022
PMCID: PMC4761318

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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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