Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.E18V
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PARK7

NM_007262.5:p.E18V

Associated Papers

Diosgenin reduces β-sheet content in mutated α-syn aggregation: Insights from conformational dynamics at intracellular and extracellular neuronal salt concentrations.

Nandeshwar et al.

Journal of Molecular Graphics & Modelling, 2026

Pathological and Molecular Insights into the Early Stage of Multiple System Atrophy.

Tanaka MT et al.

Cells, 2025

DJ-1 in Parkinson's disease: Its important role at endoplasmic reticulum-mitochondria contact sites.

Fan H et al.

Behavioural Brain Research, 2025

Challenges and Opportunities of Early Parkinson's Disease Biomarkers: α-Synuclein, Leucine-Rich Repeat Kinase 2 (LRRK2), DJ-1, and microRNAs.

Heineman A et al.

Cureus, 2025

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

Sobhifar P et al.

Brain Sciences, 2025

The Parkinson's disease DJ-1/PARK7 gene controls peripheral neuronal excitability and painful neuropathy.

Lee SH et al.

Brain : a Journal of Neurology, 2025

Targeting chaperone-mediated autophagy in neurodegenerative diseases: mechanisms and therapeutic potential.

Wu J et al.

Acta Pharmacologica Sinica, 2025

Synaptic sabotage: How Tau and α-Synuclein undermine synaptic health.

Uytterhoeven V et al.

The Journal of Cell Biology, 2025

G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.

Stykel MG et al.

Cell Reports, 2025

Key genes and convergent pathogenic mechanisms in Parkinson disease.

Coukos R et al.

Nature Reviews. Neuroscience, 2024

Role of Autophagy Pathway in Parkinson's Disease and Related Genetic Neurological Disorders.

Themistokleous C et al.

Journal of Molecular Biology, 2023

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

Karyopherin abnormalities in neurodegenerative proteinopathies.

Pasha T et al.

Brain : a Journal of Neurology, 2021

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

Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Wang C et al.

Translational Neurodegeneration, 2021

Studying the effect of alpha-synuclein and Parkinson's disease linked mutants on inter pathway connectivities.

Sen S et al.

Scientific Reports, 2021

Therapeutic Potential of Vital Transcription Factors in Alzheimer's and Parkinson's Disease With Particular Emphasis on Transcription Factor EB Mediated Autophagy.

Rai SN et al.

Frontiers in Neuroscience, 2021

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

Parkinson's: A Disease of Aberrant Vesicle Trafficking.

Singh PK et al.

Annual Review of Cell and Developmental Biology, 2020

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

Boussaad I et al.

Science Translational Medicine, 2020

Reduced oligodendrocyte exosome secretion in multiple system atrophy involves SNARE dysfunction.

Yu Z et al.

Brain : a Journal of Neurology, 2020

32428221 (PubMed )
Supplement: awaa110_supplementary_data.zip › awaa110-suppl_data › Yu_et_al_MSA_exosomes_Suppl_material_2020-4-7_rev_AU_.docx

Protein-Protein Interactions in Alpha-Synuclein Biogenesis: New Potential Targets in Parkinson's Disease.

Hernandez SM et al.

Frontiers in Aging Neuroscience, 2020

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

Repici M et al.

Journal of Clinical Medicine, 2019

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

Jellinger KA

Journal of Neural Transmission (vienna, Austria : 1996), 2019

Role of DJ-1 in the mechanism of pathogenesis of Parkinson's disease.

Dolgacheva LP et al.

Journal of Bioenergetics and Biomembranes, 2019

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

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

Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

Jahantigh D et al.

Journal of Assisted Reproduction and Genetics, 2017

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Diversity of astroglial responses across human neurodegenerative disorders and brain aging.

Ferrer I

Brain Pathology (zurich, Switzerland), 2017

Mechanisms of Gene-Environment Interactions in Parkinson's Disease.

Fleming SM

Current Environmental Health Reports, 2017

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies.

Vicente Miranda H et al.

Brain : a Journal of Neurology, 2017

Epidemiology, environmental risk factors and genetics of Parkinson's disease.

Delamarre A et al.

Presse Medicale (paris, France : 1983), 2017

DJ-1 Inhibits α-Synuclein Aggregation by Regulating Chaperone-Mediated Autophagy.

Xu CY et al.

Frontiers in Aging Neuroscience, 2017

Expression of DJ-1 in Neurodegenerative Disorders.

Antipova D et al.

Advances in Experimental Medicine and Biology, 2017

Glia and alpha-synuclein in neurodegeneration: A complex interaction.

Brück D et al.

Neurobiology of Disease, 2016

Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1.

van der Merwe C et al.

The European Journal of Neuroscience, 2015

PARK13 regulates PINK1 and subcellular relocation patterns under oxidative stress in neurons.

Patil KS et al.

Journal of Neuroscience Research, 2014

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Mitochondrial diseases of the brain.

Chaturvedi RK et al.

Free Radical Biology & Medicine, 2013

Age-dependent effects of A53T alpha-synuclein on behavior and dopaminergic function.

Oaks AW et al.

Plos One, 2013

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

Wang X et al.

Journal of Neurochemistry, 2012

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

YajL, prokaryotic homolog of parkinsonism-associated protein DJ-1, functions as a covalent chaperone for thiol proteome.

Le HT et al.

The Journal of Biological Chemistry, 2012

Parkinson's disease.

Mhyre TR et al.

Sub-cellular Biochemistry, 2012

Activity-dependent acetylation of alpha tubulin in the hippocampus.

Pandey K et al.

Journal of Molecular Neuroscience : Mn, 2011

Genetic LRRK2 models of Parkinson's disease: Dissecting the pathogenic pathway and exploring clinical applications.

Yue Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

New animal models of Parkinson's disease.

Dehay B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

Defects in very long chain fatty acid synthesis enhance alpha-synuclein toxicity in a yeast model of Parkinson's disease.

Lee YJ et al.

Plos One, 2011

On the road to leucine-rich repeat kinase 2 signalling: evidence from cellular and in vivo studies.

Daniëls V et al.

Neuro-signals, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

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