Parkin genetics: one model for Parkinson's disease
Identifieur interne : 001594 ( Main/Exploration ); précédent : 001593; suivant : 001595Parkin genetics: one model for Parkinson's disease
Auteurs : Ignacio F. Mata [États-Unis] ; Paul J. Lockhart [États-Unis] ; Matthew J. Farrer [États-Unis]Source :
- 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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