XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair(1,2). Here, we show that biallelic mutations in human XRCC1 are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. XRCC1-mutant patient cel...

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Published in:Nature
Main Authors: Hoch, Nicolas, Hanzlikova, Hana, Rulten, Stuart L., Tétreault, Martine, Koumulainen, Emilia, Ju, Limei, Hornyak, Peter, Zeng, Zhihong, Gittens, William, Rey, Stephanie, Staras, Kevin, Mancini, Grazia M.S., McKinnon, Peter J., Wang, Zhao-Qi, Wagner, Justin, Yoon, Grace, Caldecott, Keith W.
Format: Artigo
Language:Inglês
Published: 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5218588/
https://ncbi.nlm.nih.gov/pubmed/28002403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature20790
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