Article
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Nature - 5 Jan 2017
Hoch Nicolas C, Hanzlikova Hana, Rulten Stuart L, Tétreault Martine, Komulainen Emilia, Ju Limei, Hornyak Peter, Zeng Zhihong, Gittens William, Rey Stephanie A, Staras Kevin, Mancini Grazia M S, McKinnon Peter J, Wang Zhao-Qi, Wagner Justin D, Yoon Grace, Caldecott Keith W
Abstract excerpt
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of...
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