Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A39S
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PARK7

NM_007262.5:p.A39S

Associated Papers

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

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

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

Expression profiles of genes in wild-type DJ-1 and A39S DJ-1 mutant cells.

Liu Z et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2014

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 2014

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

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

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

Tang B et al.

Human Molecular Genetics, 2006

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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."