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Research Article

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

  • Joyce van de Leemput equal contributor,

    equal contributor Contributed equally to this work with: Joyce van de Leemput, Jayanth Chandran

    Affiliations: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, United Kingdom

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  • Jayanth Chandran equal contributor,

    equal contributor Contributed equally to this work with: Joyce van de Leemput, Jayanth Chandran

    Affiliations: Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America

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  • Melanie A Knight,

    Affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Lynne A Holtzclaw,

    Affiliation: Section on Cell Biology and Signal Transduction, National Institute on Child Health and Development, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Sonja Scholz,

    Affiliations: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom

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  • Mark R Cookson,

    Affiliation: Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Henry Houlden,

    Affiliation: Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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  • Katrina Gwinn-Hardy,

    Affiliation: National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Hon-Chung Fung,

    Affiliations: Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei, Taiwan

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  • Xian Lin,

    Affiliation: Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Dena Hernandez,

    Affiliation: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Javier Simon-Sanchez,

    Affiliations: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Unitat de Genética Molecular, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas, Valencia, Spain

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  • Nick W Wood,

    Affiliation: Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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  • Paola Giunti,

    Affiliation: Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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  • Ian Rafferty,

    Affiliation: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • John Hardy,

    Affiliations: Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Elsdon Storey,

    Affiliations: Department of Medicine, Alfred Hospital, Monash University, Melbourne, Australia, Genetic Health Services Victoria, Melbourne, Australia

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  • R. J. McKinlay Gardner,

    Affiliations: Genetic Health Services Victoria, Melbourne, Australia, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia

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  • Susan M Forrest,

    Affiliation: Australian Genome Research Facility, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia

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  • Elizabeth M. C Fisher,

    Affiliation: Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, United Kingdom

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  • James T Russell,

    Affiliation: Section on Cell Biology and Signal Transduction, National Institute on Child Health and Development, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Huaibin Cai,

    Affiliation: Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Andrew B Singleton mail

    To whom correspondence should be addressed. E-mail: singleta@mail.nih.gov

    Affiliation: Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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  • Published: June 22, 2007
  • DOI: 10.1371/journal.pgen.0030108

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