Parkin genetics: One model for Parkinson's disease

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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. © Oxford Uiversity Press 2004; all rights reserved.

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Mata, I. F., Lockhart, P. J., & Farrer, M. J. (2004, April 1). Parkin genetics: One model for Parkinson’s disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddh089

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