Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.C46S
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PARK7

NM_007262.5:p.C46S

Associated Papers

S-Nitrosylation-mediated coupling of DJ-1 with PTEN induces PI3K/AKT/mTOR pathway-dependent keloid formation.

Lv D et al.

Burns & Trauma, 2023

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

Stepwise oxidations play key roles in the structural and functional regulations of DJ-1.

Song IK et al.

The Biochemical Journal, 2021

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

Transnitrosylation from DJ-1 to PTEN attenuates neuronal cell death in parkinson's disease models.

Choi MS et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Monomer DJ-1 and its N-terminal sequence are necessary for mitochondrial localization of DJ-1 mutants.

Maita C et al.

Plos One, 2013

Dopamine-derived quinones affect the structure of the redox sensor DJ-1 through modifications at Cys-106 and Cys-53.

Girotto S et al.

The Journal of Biological Chemistry, 2012

Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase 1.

Waak J et al.

The Journal of Biological Chemistry, 2009

Mitochondrial localization of DJ-1 leads to enhanced neuroprotection.

Junn E et al.

Journal of Neuroscience Research, 2009

Reduced anti-oxidative stress activities of DJ-1 mutants found in Parkinson's disease patients.

Takahashi-Niki K et al.

Biochemical and Biophysical Research Communications, 2004

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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."