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Article

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.

Nature communications - 7 Jul 2020

Hanzlikova Hana, Prokhorova Evgeniia, Krejcikova Katerina, Cihlarova Zuzana, Kalasova Ilona, Kubovciak Jan, Sachova Jana, Hailstone Richard, Brazina Jan, Ghosh Shereen, Cirak Sebahattin, Gleeson Joseph G, Ahel Ivan, Caldecott Keith W

Abstract excerpt

Neurodegeneration is a common hallmark of individuals with hereditary defects in DNA single-strand break repair; a process regulated by poly(ADP-ribose) metabolism. Recently, mutations in the ARH3 (ADPRHL2) hydrolase that removes ADP-ribose from proteins have been associated with neurodegenerative disease. Here, we show that ARH3-mutated patient cells accumulate mono(ADP-ribose) scars on core histones that are a...

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Identifiers

PMID: 32636369
DOI: 10.1038/s41467-020-17069-9
PMCID: PMC7341855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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