Human Molecular Genetics Advance Access published online on February 19, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh089
© 2004 by Oxford University Press
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1 Laboratories of Neurogenetics, Dept of Neuroscience, Mayo Clinic Jacksonville, Florida
* To whom correspondence should be addressed. E-mail: farrer.matthew{at}mayo.edu.
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.
Article
Parkin genetics: one model for Parkinson's disease
2 Laboratories of Neurogenetics, Dept of Neuroscience, Mayo Clinic Jacksonville, Birdsall Bldg, Rm 206, Jacksonville, Fl 32224, USA
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