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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
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.
Affiliation
  • Hoch NC; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Hanzlikova H; CAPES Foundation, Ministry of Education of Brazil, Brasilia/DF 70040-020, Brazil.
  • Rulten SL; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Tétreault M; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Komulainen E; Department of Human Genetics, McGill University and Genome Québec Innovation Centre, Montréal, Québec, H3A 0G4, Canada.
  • Ju L; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Hornyak P; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Zeng Z; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Gittens W; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Rey SA; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.
  • Staras K; Neuroscience, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK.
  • Mancini GM; Neuroscience, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK.
  • McKinnon PJ; Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
  • Wang ZQ; St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
  • Wagner JD; Leibniz Institute for Age Research, Fritz Lipmann Institute, 1107745 Jena, Germany.
  • Caldecott KW; Division of Clinical and Metabolic Genetics, and Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, Canada.
Nature ; 541(7635): 87-91, 2017 01 05.
Article in En | MEDLINE | ID: mdl-28002403

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / DNA-Binding Proteins / Poly (ADP-Ribose) Polymerase-1 / Mutation Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nature Year: 2017 Type: Article Affiliation country: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / DNA-Binding Proteins / Poly (ADP-Ribose) Polymerase-1 / Mutation Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nature Year: 2017 Type: Article Affiliation country: United kingdom