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Article

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

Acta neuropathologica - 1 Jan 2015

Russ Jenny, Liu Elaine Y, Wu Kathryn, Neal Donald, Suh EunRan, Irwin David J, McMillan Corey T, Harms Matthew B, Cairns Nigel J, Wood Elisabeth M, Xie Sharon X, Elman Lauren, McCluskey Leo, Grossman Murray, Van Deerlin Vivianna M, Lee Edward B

Abstract excerpt

C9orf72 promoter hypermethylation inhibits the accumulation of pathologies which have been postulated to be neurotoxic. We tested here whether C9orf72 hypermethylation is associated with prolonged disease in C9orf72 mutation carriers. C9orf72 methylation was quantified from brain or blood using methylation-sensitive restriction enzyme digest-qPCR in a cross-sectional cohort of 118 C9orf72 repeat expansion...

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Amyotrophic Lateral Sclerosis
C9orf72 Protein
Cognition Disorders
Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Methylation

DNA Repeat Expansion

Frontotemporal Lobar Degeneration

Multivariate Analysis

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Identifiers

PMID: 25388784
DOI: 10.1007/s00401-014-1365-0
PMCID: PMC4282973

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