Parkin genetics: one model for Parkinson's disease
Identifieur interne : 001041 ( Main/Corpus ); précédent : 001040; suivant : 001042Parkin genetics: one model for Parkinson's disease
Auteurs : Ignacio F. Mata ; Paul J. Lockhart ; Matthew J. FarrerSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2004-04-01.
Abstract
The genetic epidemiology of late-onset idiopathic Parkinson's disease (PD) and ‘parkin-proven’ parkinsonism (AR-JP) are limited. The clinical phenotype, prognosis and treatments are similar although PD is prevalent while AR-JP is rare. Molecular genetic and functional analysis suggests the E3 ubiquitin protein ligase activity of parkin, and the ubiquitin-proteosomal pathway, is central to disease pathogenesis. Herein, we compare and contrast PD and AR-JP and discuss the implications of recent data about parkin's genomic organization, regulation and function.
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DOI: 10.1093/hmg/ddh089
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Mata</name><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. 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The clinical phenotype, prognosis and treatments are similar although PD is prevalent while AR-JP is rare. Molecular genetic and functional analysis suggests the E3 ubiquitin protein ligase activity of parkin, and the ubiquitin-proteosomal pathway, is central to disease pathogenesis. Herein, we compare and contrast PD and AR-JP and discuss the implications of recent data about parkin's genomic organization, regulation and function.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Ignacio F. Mata</name><affiliations><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>Paul J. Lockhart</name><affiliations><json:string>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>Matthew J. 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