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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Author

Listed:
  • Sherif F. El-Khamisy

    (University of Sussex)

  • Gulam M. Saifi

    (Baylor College of Medicine)

  • Michael Weinfeld

    (Cross Cancer Institute)

  • Fredrik Johansson

    (Stockholm University)

  • Thomas Helleday

    (Stockholm University
    University of Sheffield, Medical School)

  • James R. Lupski

    (Baylor College of Medicine)

  • Keith W. Caldecott

    (University of Sussex)

Abstract

Ataxia cause identified An investigation into the molecular basis of the disease SCAN1 (spinocerebellar ataxia with axonal neuropathy-1) has identified for the first time a defect in the repair of chromosomal single-strand breaks in a neurodegenerative disease. The disease results from mutations in tyrosyl phosphodiesterase 1, but the known function of this enzyme — repairing double-strand breaks during replication — seemed unlikely to cause the observed pathology. The new study reveals a second function for the enzyme in human cells: repairing chromosome breaks caused by oxidative stress in post-mitotic neurons, and it is this that is likely to cause the symptoms of SCAN-1.

Suggested Citation

  • Sherif F. El-Khamisy & Gulam M. Saifi & Michael Weinfeld & Fredrik Johansson & Thomas Helleday & James R. Lupski & Keith W. Caldecott, 2005. "Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1," Nature, Nature, vol. 434(7029), pages 108-113, March.
    • Handle: RePEc:nat:nature:v:434:y:2005:i:7029:d:10.1038_nature03314
    DOI: 10.1038/nature03314
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    Cited by:

    1. Zita Fábián & Ellen S. Kakulidis & Ivo A. Hendriks & Ulrike Kühbacher & Nicolai B. Larsen & Marta Oliva-Santiago & Junhui Wang & Xueyuan Leng & A. Barbara Dirac-Svejstrup & Jesper Q. Svejstrup & Micha, 2024. "PARP1-dependent DNA-protein crosslink repair," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    2. Daipayan Banerjee & Kurt Langberg & Salar Abbas & Eric Odermatt & Praveen Yerramothu & Martin Volaric & Matthew A. Reidenbach & Kathy J. Krentz & C. Dustin Rubinstein & David L. Brautigan & Tarek Abba, 2021. "A non-canonical, interferon-independent signaling activity of cGAMP triggers DNA damage response signaling," Nature Communications, Nature, vol. 12(1), pages 1-24, December.

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