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Article

TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis.

Neuropathology and applied neurobiology - 1 Feb 2021

Appleby-Mallinder C, Schaber E, Kirby J, Shaw P J, Cooper-Knock J, Heath P R, Highley J R

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neurone (MN) degeneration and death. ALS can be sporadic (sALS) or familial, with a number of associated gene mutations, including C9orf72 (C9ALS). DNA methylation is an epigenetic mechanism whereby a methyl group is attached to a cytosine (5mC), resulting in gene expression repression. 5mC can be further...

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PMID: 32365404
DOI: 10.1111/nan.12625

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