The ubiquitin pathway in parkinson's disease

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. Access through your institution Buy or subscribe This is a preview of

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ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support REFERENCES * Polymeropoulos, M. H._et al._ _Science_ 276, 2045–2047

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R. L. _Biochemistry_ 37, 1868–1879 (1998). Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Genetic Disease Research Branch, NHGRI, NIH, Building 49 Room

4A66, Bethesda, 20892, Maryland, USA Elisabeth Leroy, Rebecca Boyer, Georg Auburger, Anindya Dehejia, Christian Lavedan & Mihael H. Polymeropoulos * Department of Neurology, University

Hospital, PO Box 101007, 40001, Düsseldorf, Germany Georg Auburger & Barbara Leube * Paracelcus-Elena-Klinik, Kassel, 34128, Germany Gudrun Ulm * Basic Neuroscience Program, NINDS, NIH,

Building 36 Room 3D06, Bethesda, 20892, Maryland, USA Eva Mezey & Gyongyi Harta * Section on Genetics, NIMH, NIH, Building 36 Room 3D06, Bethesda, 20892, Maryland, USA Michael J.

Brownstein * Department of Biochemistry, Emory University School of Medicine, Atlanta, 30322, Georgia, USA Sobhanadditya Jonnalagada, Tanya Chernova & Keith D. Wilkinson * Neurologische

Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universitat, München, Germany Thomas Gasser * Center for Molecular Modeling, CIT, NIH, Building 12A Room2041, Bethesda, 20892, Maryland, USA

Peter J. Steinbach Authors * Elisabeth Leroy View author publications You can also search for this author inPubMed Google Scholar * Rebecca Boyer View author publications You can also search

for this author inPubMed Google Scholar * Georg Auburger View author publications You can also search for this author inPubMed Google Scholar * Barbara Leube View author publications You

can also search for this author inPubMed Google Scholar * Gudrun Ulm View author publications You can also search for this author inPubMed Google Scholar * Eva Mezey View author publications

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author publications You can also search for this author inPubMed Google Scholar * Sobhanadditya Jonnalagada View author publications You can also search for this author inPubMed Google

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RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Leroy, E., Boyer, R., Auburger, G. _et al._ The ubiquitin pathway in Parkinson's disease. _Nature_

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