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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Author

Listed:
  • Clement Y. Chow

    (Department of Human Genetics,)

  • Yanling Zhang

    (Life Sciences Institute,)

  • James J. Dowling

    (University of Michigan, Ann Arbor, Michigan 48109, USA)

  • Natsuko Jin

    (Life Sciences Institute,)

  • Maja Adamska

    (Department of Human Genetics,)

  • Kensuke Shiga

    (Departments of Molecular and Human Genetics,)

  • Kinga Szigeti

    (Departments of Molecular and Human Genetics,
    Neurology, Baylor College of Medicine)

  • Michael E. Shy

    (Wayne State University School of Medicine, Detroit, Michigan 48201, USA)

  • Jun Li

    (Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    John D. Dingle VA Medical Center, Detroit, Michigan 48201, USA)

  • Xuebao Zhang

    (Wayne State University School of Medicine, Detroit, Michigan 48201, USA)

  • James R. Lupski

    (Departments of Molecular and Human Genetics,
    Pediatrics, and,
    Texas Children’s Hospital, Houston, Texas 77030, USA)

  • Lois S. Weisman

    (Life Sciences Institute,
    and)

  • Miriam H. Meisler

    (Department of Human Genetics,)

Abstract

Pale tremor gene discovery The appearance of a spontaneous mutation in mice in a University of Michigan research laboratory has led to the identification of the gene responsible for a form of the inherited neurodegenerative disease called Charcot–Marie–Tooth disorder. The pale tremor mice, which develop a multi-organ neurodegeneration, are mutated in a homologue of the yeast gene Fig4, which is required to maintain normal levels of the signalling lipid PtdIns(3,5)P2. Prior to this work, there had been no indication that the low abundance signalling compound PtdIns(3,5)P2 had a specific role in neuronal maintenance.

Suggested Citation

  • Clement Y. Chow & Yanling Zhang & James J. Dowling & Natsuko Jin & Maja Adamska & Kensuke Shiga & Kinga Szigeti & Michael E. Shy & Jun Li & Xuebao Zhang & James R. Lupski & Lois S. Weisman & Miriam H., 2007. "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J," Nature, Nature, vol. 448(7149), pages 68-72, July.
    • Handle: RePEc:nat:nature:v:448:y:2007:i:7149:d:10.1038_nature05876
    DOI: 10.1038/nature05876
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