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Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R127-33. Epub 2004 Feb 19.

Parkin genetics: one model for Parkinson's disease.

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1
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA.

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.

PMID:
14976155
DOI:
10.1093/hmg/ddh089
[Indexed for MEDLINE]
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