Literature DB >> 22266881

Genetics of Parkinson's disease.

Kishore R Kumar1, Ana Djarmati-Westenberger, Anne Grünewald.   

Abstract

The identification of genes contributing to Parkinson's disease (PD) has allowed for an improved understanding of the underlying pathogenesis of the disorder. The authors review the rapidly growing field of PD genetics, with a focus on the clinical, genetic, and pathophysiologic features of well-validated monogenic forms of PD caused by mutations in the SNCA, LRRK2, PARKIN, PINK1, DJ-1, and ATP13A2 genes. In addition, they discuss mutations in the GBA gene, which increase susceptibility for PD. The authors also evaluate the implications of genome-wide association studies and stem cell-derived disease models and give recommendations for genetic testing. © Thieme Medical Publishers.

Entities:  

Mesh:

Year:  2012        PMID: 22266881     DOI: 10.1055/s-0031-1299782

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  26 in total

Review 1.  The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects.

Authors:  Amica C Müller-Nedebock; Rebecca R Brennan; Marianne Venter; Ilse S Pienaar; Francois H van der Westhuizen; Joanna L Elson; Owen A Ross; Soraya Bardien
Journal:  Neurochem Int       Date:  2019-06-21       Impact factor: 3.921

2.  Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery.

Authors:  Haiyan Fu; Aaron S Meadows; Tierra Ware; Robert P Mohney; Douglas M McCarty
Journal:  Mol Ther       Date:  2017-01-28       Impact factor: 11.454

3.  Down-regulation of LRRK2 in control and DAT transfected HEK cells increases manganese-induced oxidative stress and cell toxicity.

Authors:  Jerome A Roth; Michelle Eichhorn
Journal:  Neurotoxicology       Date:  2013-04-27       Impact factor: 4.294

Review 4.  Calcium signaling and molecular mechanisms underlying neurodegenerative diseases.

Authors:  Ekaterina Pchitskaya; Elena Popugaeva; Ilya Bezprozvanny
Journal:  Cell Calcium       Date:  2017-06-30       Impact factor: 6.817

Review 5.  Calcium and Parkinson's disease.

Authors:  D James Surmeier; Paul T Schumacker; Jaime D Guzman; Ema Ilijic; Ben Yang; Enrico Zampese
Journal:  Biochem Biophys Res Commun       Date:  2016-08-30       Impact factor: 3.575

Review 6.  Distinguishing essential tremor from Parkinson's disease: bedside tests and laboratory evaluations.

Authors:  Mary Ann Thenganatt; Elan D Louis
Journal:  Expert Rev Neurother       Date:  2012-06       Impact factor: 4.618

Review 7.  Oxidative stress-induced signaling pathways implicated in the pathogenesis of Parkinson's disease.

Authors:  Georgia S Gaki; Athanasios G Papavassiliou
Journal:  Neuromolecular Med       Date:  2014-02-13       Impact factor: 3.843

Review 8.  Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Authors:  Dena G Hernandez; Xylena Reed; Andrew B Singleton
Journal:  J Neurochem       Date:  2016-04-18       Impact factor: 5.372

Review 9.  Purinergic Receptors in Basal Ganglia Diseases: Shared Molecular Mechanisms between Huntington's and Parkinson's Disease.

Authors:  Talita Glaser; Roberta Andrejew; Ágatha Oliveira-Giacomelli; Deidiane Elisa Ribeiro; Lucas Bonfim Marques; Qing Ye; Wen-Jing Ren; Alexey Semyanov; Peter Illes; Yong Tang; Henning Ulrich
Journal:  Neurosci Bull       Date:  2020-10-07       Impact factor: 5.203

10.  Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse.

Authors:  C J Finno; T Famula; M Aleman; R J Higgins; J E Madigan; D L Bannasch
Journal:  J Vet Intern Med       Date:  2012-11-27       Impact factor: 3.333

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