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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Author

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  • Nicolas C. Hoch

    (Genome Damage and Stability Centre, School of Life Sciences, University of Sussex
    CAPES Foundation, Ministry of Education of Brazil)

  • 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)

Abstract

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

Suggested Citation

  • 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, 2017. "XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia," Nature, Nature, vol. 541(7635), pages 87-91, January.
    • Handle: RePEc:nat:nature:v:541:y:2017:i:7635:d:10.1038_nature20790
    DOI: 10.1038/nature20790
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    Cited by:

    1. Megha Jhanji & Chintada Nageswara Rao & Jacob C. Massey & Marion C. Hope & Xueyan Zhou & C. Dirk Keene & Tao Ma & Michael D. Wyatt & Jason A. Stewart & Mathew Sajish, 2022. "Cis- and trans-resveratrol have opposite effects on histone serine-ADP-ribosylation and tyrosine induced neurodegeneration," Nature Communications, Nature, vol. 13(1), pages 1-17, December.

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