Literature DB >> 22315721

Genetics of Parkinson's disease.

Christine Klein1, Ana Westenberger.   

Abstract

Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD. Monogenic forms, caused by a single mutation in a dominantly or recessively inherited gene, are well-established, albeit relatively rare types of PD. They collectively account for about 30% of the familial and 3%-5% of the sporadic cases. In this article, we will summarize the current knowledge and understanding of the molecular genetics of PD. In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.

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Year:  2012        PMID: 22315721      PMCID: PMC3253033          DOI: 10.1101/cshperspect.a008888

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  84 in total

1.  Genetics of Parkinson's disease: LRRK2 on the rise.

Authors:  Alexis Brice
Journal:  Brain       Date:  2005-12       Impact factor: 13.501

2.  Familial mutants of alpha-synuclein with increased neurotoxicity have a destabilized conformation.

Authors:  Carlos W Bertoncini; Claudio O Fernandez; Christian Griesinger; Thomas M Jovin; Markus Zweckstetter
Journal:  J Biol Chem       Date:  2005-07-14       Impact factor: 5.157

3.  Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication.

Authors:  T Uchiyama; T Ikeuchi; Y Ouchi; M Sakamoto; K Kasuga; A Shiga; M Suzuki; M Ito; T Atsumi; T Shimizu; T Ohashi
Journal:  Neurology       Date:  2008-10-14       Impact factor: 9.910

4.  Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.

Authors:  M H Polymeropoulos; J J Higgins; L I Golbe; W G Johnson; S E Ide; G Di Iorio; G Sanges; E S Stenroos; L T Pho; A A Schaffer; A M Lazzarini; R L Nussbaum; R C Duvoisin
Journal:  Science       Date:  1996-11-15       Impact factor: 47.728

5.  PINK1 (PARK6) associated Parkinson disease in Ireland.

Authors:  D G Healy; P M Abou-Sleiman; J M Gibson; O A Ross; S Jain; S Gandhi; D Gosal; M M K Muqit; N W Wood; T Lynch
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

6.  PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Authors:  Christine Klein; Ana Djarmati; Katja Hedrich; Nora Schäfer; Cesa Scaglione; Roberta Marchese; Norman Kock; Birgitt Schüle; Anja Hiller; Thora Lohnau; Susen Winkler; Karin Wiegers; Robert Hering; Peter Bauer; Olaf Riess; Giovanni Abbruzzese; Paolo Martinelli; Peter P Pramstaller
Journal:  Eur J Hum Genet       Date:  2005-09       Impact factor: 4.246

7.  Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.

Authors:  N Brueggemann; P Odin; A Gruenewald; V Tadic; J Hagenah; G Seidel; K Lohmann; C Klein; A Djarmati
Journal:  Neurology       Date:  2008-10-14       Impact factor: 9.910

8.  Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.

Authors:  A R Troiano; C Cazeneuve; I Le Ber; A-M Bonnet; S Lesage; A Brice
Journal:  Neurology       Date:  2008-10-14       Impact factor: 9.910

9.  Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

Authors:  P Ibáñez; A-M Bonnet; B Débarges; E Lohmann; F Tison; P Pollak; Y Agid; A Dürr; A Brice
Journal:  Lancet       Date:  2004 Sep 25-Oct 1       Impact factor: 79.321

10.  Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Authors:  Pablo Ibáñez; Suzanne Lesage; Sabine Janin; Ebba Lohmann; Frank Durif; Alain Destée; Anne-Marie Bonnet; Christine Brefel-Courbon; Simon Heath; Diana Zelenika; Yves Agid; Alexandra Dürr; Alexis Brice
Journal:  Arch Neurol       Date:  2009-01
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  370 in total

1.  Multisystem Lewy body disease and the other parkinsonian disorders.

Authors:  J William Langston; Birgitt Schüle; Linda Rees; R Jeremy Nichols; Carrolee Barlow
Journal:  Nat Genet       Date:  2015-12       Impact factor: 38.330

2.  Mutant huntingtin inhibits the mitochondrial unfolded protein response by impairing ABCB10 mRNA stability.

Authors:  Zixing Fu; Fang Liu; Chunyue Liu; Beifang Jin; Yueqing Jiang; Mingliang Tang; Xin Qi; Xing Guo
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-02-23       Impact factor: 5.187

3.  Parkin ubiquitinates phosphoglycerate dehydrogenase to suppress serine synthesis and tumor progression.

Authors:  Juan Liu; Cen Zhang; Hao Wu; Xiao-Xin Sun; Yanchen Li; Shan Huang; Xuetian Yue; Shou-En Lu; Zhiyuan Shen; Xiaoyang Su; Eileen White; Bruce G Haffty; Wenwei Hu; Zhaohui Feng
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

Review 4.  Microglia and astrocyte dysfunction in parkinson's disease.

Authors:  Tae-In Kam; Jared T Hinkle; Ted M Dawson; Valina L Dawson
Journal:  Neurobiol Dis       Date:  2020-07-28       Impact factor: 5.996

Review 5.  Microtubule-stabilizing agents as potential therapeutics for neurodegenerative disease.

Authors:  Kurt R Brunden; John Q Trojanowski; Amos B Smith; Virginia M-Y Lee; Carlo Ballatore
Journal:  Bioorg Med Chem       Date:  2013-12-30       Impact factor: 3.641

6.  Overexpression of alpha-synuclein at non-toxic levels increases dopaminergic cell death induced by copper exposure via modulation of protein degradation pathways.

Authors:  Annadurai Anandhan; Humberto Rodriguez-Rocha; Iryna Bohovych; Amy M Griggs; Laura Zavala-Flores; Elsa M Reyes-Reyes; Javier Seravalli; Lia A Stanciu; Jaekwon Lee; Jean-Christophe Rochet; Oleh Khalimonchuk; Rodrigo Franco
Journal:  Neurobiol Dis       Date:  2014-12-08       Impact factor: 5.996

7.  Parkinson's Disease Master Regulators on Substantia Nigra and Frontal Cortex and Their Use for Drug Repositioning.

Authors:  D M Vargas; M A De Bastiani; R B Parsons; F Klamt
Journal:  Mol Neurobiol       Date:  2020-11-19       Impact factor: 5.590

8.  Editor's Highlight: Nlrp3 Is Required for Inflammatory Changes and Nigral Cell Loss Resulting From Chronic Intragastric Rotenone Exposure in Mice.

Authors:  Eileen M Martinez; Alison L Young; Yash R Patankar; Brent L Berwin; Li Wang; Katharine M von Herrmann; Jaclyn M Weier; Matthew C Havrda
Journal:  Toxicol Sci       Date:  2017-09-01       Impact factor: 4.849

Review 9.  Use of genetically modified mesenchymal stem cells to treat neurodegenerative diseases.

Authors:  Robert D Wyse; Gary L Dunbar; Julien Rossignol
Journal:  Int J Mol Sci       Date:  2014-01-23       Impact factor: 5.923

Review 10.  Parkin-dependent mitophagy in the heart.

Authors:  Gerald W Dorn
Journal:  J Mol Cell Cardiol       Date:  2015-11-22       Impact factor: 5.000

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