Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.D149A
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PARK7

NM_007262.5:p.D149A

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

Interaction Between α-Synuclein and DJ-1 in Parkinson's Disease.

Sobhifar P et al.

Brain Sciences, 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST3

Pathogenesis of DJ-1/PARK7-Mediated Parkinson's Disease.

Skou LD et al.

Cells, 2024

The reversible low-temperature instability of human DJ-1 oxidative states.

Andrews T et al.

Biopolymers, 2024

Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.

Chiu CC et al.

Molecular Neurobiology, 2023

Cranial Dystonia as an Isolated Presentation of DJ-1 Disease: Case Report and Literature Review.

Rajapakshe I et al.

Movement Disorders Clinical Practice, 2023

36825062 (PubMed )
Supplement: supplement_1.docx

S-Nitrosylation-mediated coupling of DJ-1 with PTEN induces PI3K/AKT/mTOR pathway-dependent keloid formation.

Lv D et al.

Burns & Trauma, 2023

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

Stepwise oxidations play key roles in the structural and functional regulations of DJ-1.

Song IK et al.

The Biochemical Journal, 2021

Mitochondrial LonP1 protease is implicated in the degradation of unstable Parkinson's disease-associated DJ-1/PARK 7 missense mutants.

Sánchez-Lanzas R et al.

Scientific Reports, 2021

An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Schechter M et al.

Journal of Parkinson's Disease, 2021

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

An in silico analysis of deleterious single nucleotide polymorphisms and molecular dynamics simulation of disease linked mutations in genes responsible for neurodegenerative disorder.

Pandey S et al.

Journal of Biomolecular Structure & Dynamics, 2020

Parkinson's disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth.

Chen R et al.

Cell Death & Disease, 2019

Impact of gene mutation in the development of Parkinson's disease.

Selvaraj S et al.

Genes & Diseases, 2019

Mutations in Parkinson's Disease Associated Protein DJ-1 Alter the Energetics of DJ-1 Dimerization.

Kumar A et al.

Journal of Chemical Information and Modeling, 2019

Tri-arginine exosite patch of caspase-6 recruits substrates for hydrolysis.

MacPherson DJ et al.

The Journal of Biological Chemistry, 2019

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control.

Strobbe D et al.

Frontiers in Molecular Neuroscience, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro.

Matsuda N et al.

Scientific Reports, 2017

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.

Abbas MM et al.

Parkinsonism & Related Disorders, 2016

Structural Characterization of Missense Mutations Using High Resolution Mass Spectrometry: A Case Study of the Parkinson's-Related Protein, DJ-1.

Ben-Nissan G et al.

Journal of the American Society for Mass Spectrometry, 2016

Parkinson's disease and age: The obvious but largely unexplored link.

Abdullah R et al.

Experimental Gerontology, 2015

A Physical Interaction between the Dopamine Transporter and DJ-1 Facilitates Increased Dopamine Reuptake.

Luk B et al.

Plos One, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Reactive oxygen species-mediated DJ-1 monomerization modulates intracellular trafficking involving karyopherin β2.

Björkblom B et al.

Molecular and Cellular Biology, 2014

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.

Bras JM et al.

Movement Disorders Clinical Practice, 2014

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 2014

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.

Sironi F et al.

Neuroscience Letters, 2013

Parkinson's disease-associated DJ-1 mutations increase abnormal phosphorylation of tau protein through Akt/GSK-3β pathways.

Wang Y et al.

Journal of Molecular Neuroscience : Mn, 2013

Edaravone prevents neurotoxicity of mutant L166P DJ-1 in Parkinson's disease.

Li B et al.

Journal of Molecular Neuroscience : Mn, 2013

Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.

Björkblom B et al.

The Journal of Biological Chemistry, 2013

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Pittman AM et al.

Genetics, 2012

L166P mutant DJ-1 promotes cell death by dissociating Bax from mitochondrial Bcl-XL.

Ren H et al.

Molecular Neurodegeneration, 2012

Parkinson's disease-associated DJ-1 mutations impair mitochondrial dynamics and cause mitochondrial dysfunction.

Wang X et al.

Journal of Neurochemistry, 2012

Effect of single amino acid substitution on oxidative modifications of the Parkinson's disease-related protein, DJ-1.

Madian AG et al.

Molecular & Cellular Proteomics : Mcp, 2012

Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson disease, is due to direct endoproteolytic cleavage by the proteasome.

Alvarez-Castelao B et al.

Biochimica Et Biophysica Acta, 2012

Genetics of Parkinson's disease.

Klein C et al.

Cold Spring Harbor Perspectives in Medicine, 2012

DJ-1 variants in Indian Parkinson's disease patients.

Sadhukhan T et al.

Disease Markers, 2012

Oxidized DJ-1 interacts with the mitochondrial protein BCL-XL.

Ren H et al.

The Journal of Biological Chemistry, 2011

DJ-1 associates with synaptic membranes.

Usami Y et al.

Neurobiology of Disease, 2011

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