Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.M26I
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PARK7

NM_007262.5:p.M26I

Associated Papers

Utility of Drosophila for studying hypoxia-inducible factor (HIF) in neurodegenerative diseases: Advantages versus limitations.

Serebrovska Z et al.

Brain Research, 2025

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

Sobhifar P et al.

Brain Sciences, 2025

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

Subramaniyan S et al.

Neurogenetics, 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

A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.

Benjamin-Zukerman T et al.

Brain : a Journal of Neurology, 2024

Abnormal protein post-translational modifications induces aggregation and abnormal deposition of protein, mediating neurodegenerative diseases.

Li W et al.

Cell & Bioscience, 2024

Pathogenesis of DJ-1/PARK7-Mediated Parkinson's Disease.

Skou LD et al.

Cells, 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

DJ-1 Molecular Chaperone Activity Depresses Tau Aggregation Propensity through Interaction with Monomers.

Jimenez-Harrison D et al.

Biochemistry, 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

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

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

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 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

Glutamate-induced excitotoxicity in Parkinson's disease: The role of glial cells.

Iovino L et al.

Journal of Pharmacological Sciences, 2020

Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P).

Li Y et al.

Stem Cell Research, 2020

Chaperones and Proteostasis: Role in Parkinson's Disease.

Joshi N et al.

Diseases (basel, Switzerland), 2020

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

Repici M et al.

Journal of Clinical Medicine, 2019

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

Chen R et al.

Cell Death & Disease, 2019

Targeting mRNA translation in Parkinson's disease.

Correddu D et al.

Drug Discovery Today, 2019

Role of DJ-1 in the mechanism of pathogenesis of Parkinson's disease.

Dolgacheva LP et al.

Journal of Bioenergetics and Biomembranes, 2019

Impact of gene mutation in the development of Parkinson's disease.

Selvaraj S et al.

Genes & Diseases, 2019

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

DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress.

Yang J et al.

Cell Death & Disease, 2019

Lack of Association Between DJ-1 Gene Promoter Polymorphism and the Risk of Parkinson's Disease.

He L et al.

Frontiers in Aging Neuroscience, 2019

Current perspective of mitochondrial biology in Parkinson's disease.

Ammal Kaidery N et al.

Neurochemistry International, 2018

DJ-1 deficiency impairs synaptic vesicle endocytosis and reavailability at nerve terminals.

Kyung JW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control.

Strobbe D et al.

Frontiers in Molecular Neuroscience, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Drosophila CHIP protects against mitochondrial dysfunction by acting downstream of Pink1 in parallel with Parkin.

Chen J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2017

Recent findings on the physiological function of DJ-1: Beyond Parkinson's disease.

Biosa A et al.

Neurobiology of Disease, 2017

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

Impact of genetic variation on three dimensional structure and function of proteins.

Bhattacharya R et al.

Plos One, 2017

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

Novel Redox-Dependent Esterase Activity (EC 3.1.1.2) for DJ-1: Implications for Parkinson's Disease.

Vázquez-Mayorga E et al.

International Journal of Molecular Sciences, 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

DJ-1 deficiency impairs glutamate uptake into astrocytes via the regulation of flotillin-1 and caveolin-1 expression.

Kim JM et al.

Scientific Reports, 2016

Transient sampling of aggregation-prone conformations causes pathogenic instability of a parkinsonian mutant of DJ-1 at physiological temperature.

Milkovic NM et al.

Protein Science : a Publication of the Protein Society, 2015

Parkinson's disease and age: The obvious but largely unexplored link.

Abdullah R et al.

Experimental Gerontology, 2015

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.

Ryan BJ et al.

Trends in Biochemical Sciences, 2015

A Physical Interaction between the Dopamine Transporter and DJ-1 Facilitates Increased Dopamine Reuptake.

Luk B et al.

Plos One, 2015

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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."