Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.E64D
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PARK7

NM_007262.5:p.E64D

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

VMAT2 dysfunction impairs vesicular dopamine uptake, driving its oxidation and α-synuclein pathology in DJ-1-linked Parkinson's neurons.

Heger LM et al.

Science Advances, 2026

Utility of Drosophila for studying hypoxia-inducible factor (HIF) in neurodegenerative diseases: Advantages versus limitations.

Serebrovska Z et al.

Brain Research, 2025

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

Sobhifar P et al.

Brain Sciences, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular 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 › ST2

Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.

Padhan P et al.

Molecular and Cellular Neurosciences, 2025

Park7 deletion leads to sex-specific transcriptome changes involving NRF2-CYP1B1 axis in mouse midbrain astrocytes.

Helgueta S et al.

Npj Parkinson's Disease, 2025

PARK7/DJ-1 deficiency impairs microglial activation in response to LPS-induced inflammation.

Lind-Holm Mogensen F et al.

Journal of Neuroinflammation, 2024

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

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Fujita M et al.

Frontiers in Neuroscience, 2024

38817911 (PubMed )
Supplement: Table_1.DOCX

DJ-1 Molecular Chaperone Activity Depresses Tau Aggregation Propensity through Interaction with Monomers.

Jimenez-Harrison D et al.

Biochemistry, 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

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

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

Lv D et al.

Burns & Trauma, 2023

DJ-1 depletion prevents immunoaging in T-cell compartments.

Zeng N et al.

Embo Reports, 2022

Early-Onset Parkinson's Disease and Brain Iron Accumulation Caused by a Novel Homozygous DJ-1 Mutation.

Lin RR et al.

Journal of Parkinson's Disease, 2022

35124661 (PubMed )
Supplement: sj-pdf-1-pkn-10.3233_jpd-213033.pdf

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK7

Unfolding is the driving force for mitochondrial import and degradation of the Parkinson's disease-related protein DJ-1.

Queliconi BB et al.

Journal of Cell Science, 2021

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

A monolayer hiPSC culture system for autophagy/mitophagy studies in human dopaminergic neurons.

Stathakos P et al.

Autophagy, 2021

Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.

Avazzadeh S et al.

Brain Sciences, 2021

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

Glutamate-induced excitotoxicity in Parkinson's disease: The role of glial cells.

Iovino L et al.

Journal of Pharmacological Sciences, 2020

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.

Boussaad I et al.

Science Translational Medicine, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Human pluripotent stem cell-derived models and drug screening in CNS precision medicine.

Silva MC et al.

Annals of the New York Academy of Sciences, 2020

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Smolders S et al.

Acta Neuropathologica Communications, 2020

Deficiency in the anti-apoptotic protein DJ-1 promotes intestinal epithelial cell apoptosis and aggravates inflammatory bowel disease via p53.

Zhang J et al.

The Journal of Biological Chemistry, 2020

Mitochondrial biology in airway pathogenesis and the role of NRF2.

Cho HY et al.

Archives of Pharmacal Research, 2020

DJ-1 in Parkinson's Disease: Clinical Insights and Therapeutic Perspectives.

Repici M et al.

Journal of Clinical Medicine, 2019

Insights into GBA Parkinson's disease pathology and therapy with induced pluripotent stem cell model systems.

Baden P et al.

Neurobiology of Disease, 2019

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

DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress.

Yang J et al.

Cell Death & Disease, 2019

Lack of Association Between DJ-1 Gene Promoter Polymorphism and the Risk of Parkinson's Disease.

He L et al.

Frontiers in Aging Neuroscience, 2019

Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models.

Taoufik E et al.

Open Biology, 2018

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

DJ-1 deficiency impairs synaptic vesicle endocytosis and reavailability at nerve terminals.

Kyung JW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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

Strobbe D et al.

Frontiers in Molecular 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

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Burbulla LF et al.

Science (new York, N.y.), 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."