Literature DB >> 26965687

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

David N Hauser1, Christopher T Primiani1, Mark R Cookson2.   

Abstract

Early onset Parkinson's disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products of the three genes, then focus on the effects that disease associated variants have on these functions. We will also discuss how experimental findings can help decide whether individual variants are pathogenic or not. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Entities:  

Keywords:  DJ-1; PINK1; Variants; parkin; pathogenicity; phenotype

Mesh：

Substances：

Year:  2017        PMID： 26965687      PMCID： PMC5140758          DOI： 10.2174/1389203717666160311121954

Source DB:  PubMed          Journal:  Curr Protein Pept Sci        ISSN： 1389-2037            Impact factor:   3.272


  165 in total

1.  The ubiquitin E3 ligase parkin regulates the proapoptotic function of Bax.

Authors:  Bethann N Johnson; Alison K Berger; Giuseppe P Cortese; Matthew J Lavoie
Journal:  Proc Natl Acad Sci U S A       Date:  2012-03-29       Impact factor: 11.205

2.  Identification of functional subclasses in the DJ-1 superfamily proteins.

Authors:  Ying Wei; Dagmar Ringe; Mark A Wilson; Mary Jo Ondrechen
Journal:  PLoS Comput Biol       Date:  2007-01-26       Impact factor: 4.475

3.  Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.

Authors:  Ji-Feng Guo; Bin Xiao; Bing Liao; Xue-Wei Zhang; Li-Luo Nie; Yu-Hu Zhang; Lu Shen; Hong Jiang; Kun Xia; Qian Pan; Xin-Xiang Yan; Bei-Sha Tang
Journal:  Mov Disord       Date:  2008-10-30       Impact factor: 10.338

4.  Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Authors:  Alfredo Ramirez; André Heimbach; Jan Gründemann; Barbara Stiller; Dan Hampshire; L Pablo Cid; Ingrid Goebel; Ammar F Mubaidin; Abdul-Latif Wriekat; Jochen Roeper; Amir Al-Din; Axel M Hillmer; Meliha Karsak; Birgit Liss; C Geoffrey Woods; Maria I Behrens; Christian Kubisch
Journal:  Nat Genet       Date:  2006-09-10       Impact factor: 38.330

5.  Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations.

Authors:  Helen I Woodroof; Joe H Pogson; Mike Begley; Lewis C Cantley; Maria Deak; David G Campbell; Daan M F van Aalten; Alexander J Whitworth; Dario R Alessi; Miratul M K Muqit
Journal:  Open Biol       Date:  2011-11       Impact factor: 6.411

6.  Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase 1.

Authors:  Jens Waak; Stephanie S Weber; Karin Görner; Christoph Schall; Hidenori Ichijo; Thilo Stehle; Philipp J Kahle
Journal:  J Biol Chem       Date:  2009-03-16       Impact factor: 5.157

Review 7.  Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease.

Authors:  Olga Corti; Alexis Brice
Journal:  Curr Opin Neurobiol       Date:  2012-11-30       Impact factor: 6.627

8.  PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.

Authors:  Sven Geisler; Kira M Holmström; Diana Skujat; Fabienne C Fiesel; Oliver C Rothfuss; Philipp J Kahle; Wolfdieter Springer
Journal:  Nat Cell Biol       Date:  2010-01-24       Impact factor: 28.824

9.  High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.

Authors:  Samuel A Hasson; Lesley A Kane; Koji Yamano; Chiu-Hui Huang; Danielle A Sliter; Eugen Buehler; Chunxin Wang; Sabrina M Heman-Ackah; Tara Hessa; Rajarshi Guha; Scott E Martin; Richard J Youle
Journal:  Nature       Date:  2013-11-24       Impact factor: 49.962

10.  Parkinson's disease-associated mutations in DJ-1 modulate its dimerization in living cells.

Authors:  Mariaelena Repici; Kornelis R Straatman; Nadia Balduccio; Francisco J Enguita; Tiago F Outeiro; Flaviano Giorgini
Journal:  J Mol Med (Berl)       Date:  2012-11-27       Impact factor: 4.599
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  8 in total

1.  Reduced expression of PARK2 in manganese-exposed smelting workers.

Authors:  Ximin Fan; Ying Luo; Qiyuan Fan; Wei Zheng
Journal:  Neurotoxicology       Date:  2017-08-18       Impact factor: 4.294

Review 2.  The role of monogenic genes in idiopathic Parkinson's disease.

Authors:  Xylena Reed; Sara Bandrés-Ciga; Cornelis Blauwendraat; Mark R Cookson
Journal:  Neurobiol Dis       Date:  2018-11-15       Impact factor: 5.996

Review 3.  Alpha-Synuclein Physiology and Pathology: A Perspective on Cellular Structures and Organelles.

Authors:  Luis D Bernal-Conde; Rodrigo Ramos-Acevedo; Mario A Reyes-Hernández; Andrea J Balbuena-Olvera; Ishbelt D Morales-Moreno; Rubén Argüero-Sánchez; Birgitt Schüle; Magdalena Guerra-Crespo
Journal:  Front Neurosci       Date:  2020-01-23       Impact factor: 4.677

Review 4.  The Role of DJ-1 in Cellular Metabolism and Pathophysiological Implications for Parkinson's Disease.

Authors:  Pauline Mencke; Ibrahim Boussaad; Chiara D Romano; Toshimori Kitami; Carole L Linster; Rejko Krüger
Journal:  Cells       Date:  2021-02-07       Impact factor: 6.600

Review 5.  Iron as the concert master in the pathogenic orchestra playing in sporadic Parkinson's disease.

Authors:  P Riederer; C Monoranu; S Strobel; T Iordache; J Sian-Hülsmann
Journal:  J Neural Transm (Vienna)       Date:  2021-10-12       Impact factor: 3.575

Review 6.  Targetable Pathways for Alleviating Mitochondrial Dysfunction in Neurodegeneration of Metabolic and Non-Metabolic Diseases.

Authors:  Lauren Elizabeth Millichap; Elisabetta Damiani; Luca Tiano; Iain P Hargreaves
Journal:  Int J Mol Sci       Date:  2021-10-23       Impact factor: 5.923

7.  Specific Effects of Chronic Dietary Exposure to Chlorpyrifos on Brain Gene Expression-A Mouse Study.

Authors:  Maria Michela Pallotta; Raffaele Ronca; Rosa Carotenuto; Immacolata Porreca; Mimmo Turano; Concetta Ambrosino; Teresa Capriglione
Journal:  Int J Mol Sci       Date:  2017-11-20       Impact factor: 5.923

8.  Hexokinases link DJ-1 to the PINK1/parkin pathway.

Authors:  David N Hauser; Adamantios Mamais; Melissa M Conti; Christopher T Primiani; Ravindran Kumaran; Allissa A Dillman; Rebekah G Langston; Alexandra Beilina; Joseph H Garcia; Alberto Diaz-Ruiz; Michel Bernier; Fabienne C Fiesel; Xu Hou; Wolfdieter Springer; Yan Li; Rafael de Cabo; Mark R Cookson
Journal:  Mol Neurodegener       Date:  2017-09-29       Impact factor: 14.195
  8 in total

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