Literature DB >> 14976155

Parkin genetics: one model for Parkinson's disease.

Ignacio F Mata1, Paul J Lockhart, Matthew J Farrer.   

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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Year:  2004        PMID: 14976155     DOI: 10.1093/hmg/ddh089

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  55 in total

Review 1.  Parkinson's disease: a rethink of rodent models.

Authors:  Heather L Melrose; Sarah J Lincoln; Glenn M Tyndall; Matthew J Farrer
Journal:  Exp Brain Res       Date:  2006-04-26       Impact factor: 1.972

Review 2.  Update on genetics of parkinsonism.

Authors:  Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Neurodegener Dis       Date:  2012-01-17       Impact factor: 2.977

3.  Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association.

Authors:  E K Tan; K Y Puong; D K Y Chan; K Yew; S Fook-Chong; H Shen; P W Ng; J Woo; Y Yuen; R Pavanni; M C Wong; K Puvan; Y Zhao
Journal:  Hum Genet       Date:  2005-10-22       Impact factor: 4.132

4.  Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.

Authors:  Owen A Ross; Kristoffer Haugarvoll; Jeremy T Stone; Michael G Heckman; Linda R White; Jan O Aasly; J Mark Gibson; Timothy Lynch; Zbigniew K Wszolek; Ryan J Uitti; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2007-04-02       Impact factor: 4.891

Review 5.  The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases.

Authors:  Konstanze F Winklhofer; Jörg Tatzelt; Christian Haass
Journal:  EMBO J       Date:  2008-01-23       Impact factor: 11.598

6.  A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics.

Authors:  Mario R Cornejo-Olivas; Luis Torres; Ignacio F Mata; Pilar Mazzetti; Diana Rivas; Carlos Cosentino; Miguel Inca-Martinez; Juan M Cuba; Cyrus P Zabetian; James B Leverenz
Journal:  Parkinsonism Relat Disord       Date:  2015-01-15       Impact factor: 4.891

7.  PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.

Authors:  Katarzyna Gaweda-Walerych; Krzysztof Safranow; Barbara Jasinska-Myga; Monika Bialecka; Gabriela Klodowska-Duda; Monika Rudzinska; Krzysztof Czyzewski; Stephanie A Cobb; Jaroslaw Slawek; Maria Styczynska; Grzegorz Opala; Marek Drozdzik; Kenya Nishioka; Matthew J Farrer; Owen A Ross; Zbigniew K Wszolek; Maria Barcikowska; Cezary Zekanowski
Journal:  Parkinsonism Relat Disord       Date:  2012-02-22       Impact factor: 4.891

Review 8.  The dynamics of the mitochondrial organelle as a potential therapeutic target.

Authors:  R Anne Stetler; Rehana K Leak; Yanqin Gao; Jun Chen
Journal:  J Cereb Blood Flow Metab       Date:  2012-10-24       Impact factor: 6.200

Review 9.  Innate and adaptive immune responses in Parkinson's disease.

Authors:  Aubrey M Schonhoff; Gregory P Williams; Zachary D Wallen; David G Standaert; Ashley S Harms
Journal:  Prog Brain Res       Date:  2019-12-05       Impact factor: 2.453

10.  Identification and characterization of a novel endogenous murine parkin mutation.

Authors:  Chenere P Ramsey; Benoit I Giasson
Journal:  J Neurochem       Date:  2010-01-20       Impact factor: 5.372

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