Literature DB >> 23798000

Recent advances in Parkinson’s disease genetics.

Steven Lubbe, Huw R Morris.   

Abstract

The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mendelian and non-Mendelian factors in PD. Pathways involved in mitochondrial quality control (mitophagy), lysosomal function and immune function are emerging as important in the pathogenesis of PD. These pathways represent a target for therapeutic intervention and a way in which the heterogeneity of disease cause, as well as disease mechanism, can be established. In the future, there is likely to be an individualised basis for the treatment of PD, linked to the identification of specific genetic factors.

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Year:  2014        PMID: 23798000     DOI: 10.1007/s00415-013-7003-2

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  105 in total

1.  Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy.

Authors:  Yu Sun; Ajay A Vashisht; Jason Tchieu; James A Wohlschlegel; Lars Dreier
Journal:  J Biol Chem       Date:  2012-10-11       Impact factor: 5.157

2.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

Authors:  M H Polymeropoulos; C Lavedan; E Leroy; S E Ide; A Dehejia; A Dutra; B Pike; H Root; J Rubenstein; R Boyer; E S Stenroos; S Chandrasekharappa; A Athanassiadou; T Papapetropoulos; W G Johnson; A M Lazzarini; R C Duvoisin; G Di Iorio; L I Golbe; R L Nussbaum
Journal:  Science       Date:  1997-06-27       Impact factor: 47.728

3.  Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Authors:  Eva C Schulte; Brit Mollenhauer; Alexander Zimprich; Benjamin Bereznai; Peter Lichtner; Dietrich Haubenberger; Walter Pirker; Thomas Brücke; Maria J Molnar; Annette Peters; Christian Gieger; Claudia Trenkwalder; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2012-06-16       Impact factor: 2.660

Review 4.  Genetic determinants at the interface of cancer and neurodegenerative disease.

Authors:  L G T Morris; S Veeriah; T A Chan
Journal:  Oncogene       Date:  2010-04-26       Impact factor: 9.867

Review 5.  The PINK1/Parkin pathway: a mitochondrial quality control system?

Authors:  Alexander J Whitworth; Leo J Pallanck
Journal:  J Bioenerg Biomembr       Date:  2009-12       Impact factor: 2.945

Review 6.  The function of ROCO proteins in health and disease.

Authors:  Patrick A Lewis
Journal:  Biol Cell       Date:  2009-03       Impact factor: 4.458

Review 7.  Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors:  Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

8.  Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Authors:  Chuong B Do; Joyce Y Tung; Elizabeth Dorfman; Amy K Kiefer; Emily M Drabant; Uta Francke; Joanna L Mountain; Samuel M Goldman; Caroline M Tanner; J William Langston; Anne Wojcicki; Nicholas Eriksson
Journal:  PLoS Genet       Date:  2011-06-23       Impact factor: 5.917

9.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

10.  Genomewide association studies and human disease.

Authors:  John Hardy; Andrew Singleton
Journal:  N Engl J Med       Date:  2009-04-15       Impact factor: 91.245

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  26 in total

1.  A conserved retromer sorting motif is essential for mitochondrial DLP1 recycling by VPS35 in Parkinson's disease model.

Authors:  Wenzhang Wang; Xiaopin Ma; Leping Zhou; Jun Liu; Xiongwei Zhu
Journal:  Hum Mol Genet       Date:  2017-02-15       Impact factor: 6.150

Review 2.  CRISPR System: A High-throughput Toolbox for Research and Treatment of Parkinson's Disease.

Authors:  Fatemeh Safari; Gholamreza Hatam; Abbas Behzad Behbahani; Vahid Rezaei; Mazyar Barekati-Mowahed; Peyman Petramfar; Farzaneh Khademi
Journal:  Cell Mol Neurobiol       Date:  2019-11-26       Impact factor: 5.046

Review 3.  The emerging link between O-GlcNAcylation and neurological disorders.

Authors:  Xiaofeng Ma; He Li; Yating He; Junwei Hao
Journal:  Cell Mol Life Sci       Date:  2017-05-22       Impact factor: 9.261

Review 4.  Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects.

Authors:  Hongyi Li; Yang Yang; Weiqi Hong; Mengyuan Huang; Min Wu; Xia Zhao
Journal:  Signal Transduct Target Ther       Date:  2020-01-03

Review 5.  Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Authors:  Kurt A Jellinger
Journal:  J Neural Transm (Vienna)       Date:  2019-06-18       Impact factor: 3.575

Review 6.  Mitochondrial function and autophagy: integrating proteotoxic, redox, and metabolic stress in Parkinson's disease.

Authors:  Jianhua Zhang; Matilda Lillian Culp; Jason G Craver; Victor Darley-Usmar
Journal:  J Neurochem       Date:  2018-02-14       Impact factor: 5.372

Review 7.  Splicing: is there an alternative contribution to Parkinson's disease?

Authors:  Valentina La Cognata; Velia D'Agata; Francesca Cavalcanti; Sebastiano Cavallaro
Journal:  Neurogenetics       Date:  2015-05-16       Impact factor: 2.660

8.  Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.

Authors:  Ondrej Fiala; Daniela Zahorakova; Lenka Pospisilova; Jana Kucerova; Milada Matejckova; Pavel Martasek; Jan Roth; Evzen Ruzicka
Journal:  PLoS One       Date:  2014-09-19       Impact factor: 3.240

9.  Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Authors:  S J Lubbe; V Escott-Price; A Brice; T Gasser; A M Pittman; J Bras; J Hardy; P Heutink; N M Wood; A B Singleton; D G Grosset; C B Carroll; M H Law; F Demenais; M M Iles; D T Bishop; J Newton-Bishop; N M Williams; H R Morris
Journal:  Neurobiol Aging       Date:  2016-07-28       Impact factor: 4.673

Review 10.  Mechanisms and therapeutic applications of electromagnetic therapy in Parkinson's disease.

Authors:  Maria Vadalà; Annamaria Vallelunga; Lucia Palmieri; Beniamino Palmieri; Julio Cesar Morales-Medina; Tommaso Iannitti
Journal:  Behav Brain Funct       Date:  2015-09-07       Impact factor: 3.759

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