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

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 d...

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Bibliografiske detaljer
Udgivet i:Nat Commun
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7341855/
https://ncbi.nlm.nih.gov/pubmed/32636369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-17069-9
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