Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.E163K
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PARK7

NM_007262.5:p.E163K

Associated Papers

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.

El Otmani H et al.

Movement Disorders Clinical Practice, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

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

Ishiguro M et al.

Heliyon, 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

Parkinson's disease - genetic cause.

Cherian A et al.

Current Opinion in Neurology, 2023

Genetic study of early-onset Parkinson's disease in the Malaysian population.

Tay YW et al.

Parkinsonism & Related Disorders, 2023

Molecular and Physiological Determinants of Amyotrophic Lateral Sclerosis: What the DJ-1 Protein Teaches Us.

Sandrelli F et al.

International Journal of Molecular Sciences, 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

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

35207708 (PubMed )
Supplement: jpm-12-00220-s001.zip › jpm-1518127-supplementary.pdf

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

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

The Parkinson's Disease-Associated Protein DJ-1 Protects Dictyostelium Cells from AMPK-Dependent Outcomes of Oxidative Stress.

Chen S et al.

Cells, 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

Genetics of Parkinson's disease.

Cherian A et al.

Acta Neurologica Belgica, 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

Misconnecting the dots: altered mitochondrial protein-protein interactions and their role in neurodegenerative disorders.

Zilocchi M et al.

Expert Review of Proteomics, 2020

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

Repici M et al.

Journal of Clinical Medicine, 2019

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

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

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

Hauser DN et al.

Current Protein & Peptide Science, 2017

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Hanagasi HA et al.

Parkinsonism & Related Disorders, 2016

Unexpected mitochondrial matrix localization of Parkinson's disease-related DJ-1 mutants but not wild-type DJ-1.

Kojima W et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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

DJ-1 facilitates the interaction between STAT1 and its phosphatase, SHP-1, in brain microglia and astrocytes: A novel anti-inflammatory function of DJ-1.

Kim JH et al.

Neurobiology of Disease, 2013

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

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

L10p and P158DEL DJ-1 mutations cause protein instability, aggregation, and dimerization impairments.

Ramsey CP et al.

Journal of Neuroscience Research, 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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

Keyser RJ et al.

Bmc Medical Genetics, 2009

The E163K DJ-1 mutant shows specific antioxidant deficiency.

Ramsey CP et al.

Brain Research, 2008

Structural impact of three Parkinsonism-associated missense mutations on human DJ-1.

Lakshminarasimhan M et al.

Biochemistry, 2008

Molecular pathways and genetic aspects of Parkinson's disease: from bench to bedside.

Di Napoli M et al.

Expert Review of Neurotherapeutics, 2007

Role of DJ-1 in Parkinson's disease.

Lev N et al.

Journal of Molecular Neuroscience : Mn, 2006

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

Kress JA et al.

Annals of Neurology, 2005

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