Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.D60V
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PARK7

NM_007262.5:p.D60V

Associated Papers

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445612 (PubMed )
Supplement: media-1.pdf

Large-scale copy number variant analysis in genes linked to Parkinson´s disease.

Landoulsi Z et al.

Npj Parkinson's Disease, 2025

40750593 (PubMed )
Supplement: 41531_2025_1076_MOESM2_ESM.xlsx › Table_S3

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

38310436 (PubMed )
Supplement: aim-26-346-s001.pdf

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

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

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

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

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M et al.

Neurobiology of Aging, 2018

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

Matsuda N et al.

Scientific Reports, 2017

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

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

Loss of DJ-1 protein stability and cytoprotective function by Parkinson's disease-associated proline-158 deletion.

Rannikko EH et al.

Journal of Neurochemistry, 2013

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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