XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nicolas C. Hoch, Hana Hanzlikova, Stuart L. Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, Peter Hornyak, Zhihong Zeng, William Gittens, Stephanie A. Rey, Kevin Staras, Grazia M. S. Mancini, Peter J. McKinnon, Zhao-Qi Wang, Justin D. Wagner, Grace Yoon () and Keith W. Caldecott ()
Additional contact information
Nicolas C. Hoch: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Hana Hanzlikova: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Stuart L. Rulten: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Martine Tétreault: McGill University and Genome Québec Innovation Centre
Emilia Komulainen: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Limei Ju: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Peter Hornyak: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Zhihong Zeng: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
William Gittens: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
Stephanie A. Rey: Neuroscience, School of Life Sciences, University of Sussex
Kevin Staras: Neuroscience, School of Life Sciences, University of Sussex
Grazia M. S. Mancini: Erasmus MC
Peter J. McKinnon: St. Jude Children’s Research Hospital
Zhao-Qi Wang: Leibniz Institute for Age Research, Fritz Lipmann Institute
Justin D. Wagner: The Children’s Hospital of Eastern Ontario Research Institute
Grace Yoon: The Hospital for Sick Children, University of Toronto
Keith W. Caldecott: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex

Nature, 2017, vol. 541, issue 7635, 87-91

Abstract: Biallelic mutations in human XRCC1 are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia.

Date: 2017
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DOI: 10.1038/nature20790

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