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The ubiquitin pathway in Parkinson's disease

Author

Listed:
  • Elisabeth Leroy

    (Genetic Disease Research Branch, NHGRI, NIH)

  • Rebecca Boyer

    (Genetic Disease Research Branch, NHGRI, NIH)

  • Georg Auburger

    (Genetic Disease Research Branch, NHGRI, NIH
    University Hospital)

  • Barbara Leube

    (University Hospital)

  • Gudrun Ulm

    (Paracelcus-Elena-Klinik)

  • Eva Mezey

    (Basic Neuroscience Program, NINDS, NIH)

  • Gyongyi Harta

    (Basic Neuroscience Program, NINDS, NIH)

  • Michael J. Brownstein

    (Section on Genetics, NIMH, NIH)

  • Sobhanadditya Jonnalagada

    (Emory University School of Medicine)

  • Tanya Chernova

    (Emory University School of Medicine)

  • Anindya Dehejia

    (Genetic Disease Research Branch, NHGRI, NIH)

  • Christian Lavedan

    (Genetic Disease Research Branch, NHGRI, NIH)

  • Thomas Gasser

    (Neurologische Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universitat)

  • Peter J. Steinbach

    (Center for Molecular Modeling, CIT, NIH)

  • Keith D. Wilkinson

    (Emory University School of Medicine)

  • Mihael H. Polymeropoulos

    (Genetic Disease Research Branch, NHGRI, NIH)

Abstract

Mutations of the α-synuclein gene1,2 have been identified in some familial forms of Parkinson's disease, and α-synuclein protein has been shown to accumulate in the brains of patients with the disease3. These findings suggest that Parkinson's disease may be caused by the abnormal aggregation of α-synuclein protein. Here we have identified in a German family with Parkinson's disease a missense mutation in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene. We show that this mutation, Ile93Met, causes a partial loss of the catalytic activity of this thiol protease, which could lead to aberrations in the proteolytic pathway and aggregation of proteins.

Suggested Citation

  • Elisabeth Leroy & Rebecca Boyer & Georg Auburger & Barbara Leube & Gudrun Ulm & Eva Mezey & Gyongyi Harta & Michael J. Brownstein & Sobhanadditya Jonnalagada & Tanya Chernova & Anindya Dehejia & Chris, 1998. "The ubiquitin pathway in Parkinson's disease," Nature, Nature, vol. 395(6701), pages 451-452, October.
    • Handle: RePEc:nat:nature:v:395:y:1998:i:6701:d:10.1038_26652
    DOI: 10.1038/26652
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    Cited by:

    1. Daewon Lee & Eunju Yoon & Su Jin Ham & Kunwoo Lee & Hansaem Jang & Daihn Woo & Da Hyun Lee & Sehyeon Kim & Sekyu Choi & Jongkyeong Chung, 2024. "Diabetic sensory neuropathy and insulin resistance are induced by loss of UCHL1 in Drosophila," Nature Communications, Nature, vol. 15(1), pages 1-22, December.

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