Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A104T
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PARK7

NM_007262.5:p.A104T

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

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

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

Sobhifar P et al.

Brain Sciences, 2025

Interaction of α-synuclein with DJ-1 in homodimer and L166P mutant monomer forms in Parkinson's disease: a molecular dynamics study.

Alipour M et al.

Journal of Biomolecular Structure & Dynamics, 2025

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

39498811 (PubMed )
Supplement: ENE-32-e16499-s008.xlsx › Hoja1

Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.

Han X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39556706 (PubMed )
Supplement: ADVS-12-2406849-s001.zip › Table_S13.xlsx › variant_of_asd

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Li XY et al.

European Journal of Neurology, 2024

Genetic and clinical study of PARK7 in Japanese Parkinson's disease.

Ishiguro M et al.

Heliyon, 2024

Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.

Asimakidou E et al.

Movement Disorders Clinical Practice, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

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

Andrews T et al.

Biopolymers, 2024

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.

Acar IE et al.

Investigative Ophthalmology & Visual Science, 2023

37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15

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

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

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Robak LA et al.

Neurology. Genetics, 2020

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 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

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

Chen R et al.

Cell Death & Disease, 2019

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

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

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

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

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

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

Björkblom B et al.

Molecular and Cellular Biology, 2014

Performance of protein disorder prediction programs on amino acid substitutions.

Ali H et al.

Human Mutation, 2014

24753228 (PubMed )
Supplement: supplement_1.pdf

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

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

Ren H et al.

Molecular Neurodegeneration, 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

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

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Alcalay RN et al.

Neurology, 2011

The genetics of Parkinson disease.

Bekris LM et al.

Journal of Geriatric Psychiatry and Neurology, 2010

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

Alcalay RN et al.

Archives of Neurology, 2010

Engineered disulfide bonds restore chaperone-like function of DJ-1 mutants linked to familial Parkinson's disease.

Logan T et al.

Biochemistry, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders.

Kahle PJ et al.

Free Radical Biology & Medicine, 2009

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