Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.L166P
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PARK7

NM_007262.5:p.L166P

Associated Papers

Viral infection and brain inflammation with seizures in PARK7 deficiency.

Lønskov J et al.

Journal of Human Immunity, 2026

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

DJ-1 in Parkinson's disease: Its important role at endoplasmic reticulum-mitochondria contact sites.

Fan H et al.

Behavioural Brain Research, 2025

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

Sobhifar P et al.

Brain Sciences, 2025

The reaction mechanism for glycolysis side product degradation by Parkinson's disease-linked DJ-1.

Watanabe A et al.

The Journal of Cell Biology, 2025

40464736 (PubMed )
Supplement: jcb_202411078.pdf

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.

Padhan P et al.

Molecular and Cellular Neurosciences, 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

Key genes and convergent pathogenic mechanisms in Parkinson disease.

Coukos R et al.

Nature Reviews. Neuroscience, 2024

Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration.

Arnold FJ et al.

International Journal of Molecular Sciences, 2024

Assessing the reproducibility of machine-learning-based biomarker discovery in Parkinson's disease.

Ameli A et al.

Computers in Biology and Medicine, 2024

Effects of genetic variation on the structure of RNA and protein.

Kang J et al.

Proteomics, 2024

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

Skou LD et al.

Cells, 2024

Disruption of lysosomal proteolysis in astrocytes facilitates midbrain organoid proteostasis failure in an early-onset Parkinson's disease model.

Morrone Parfitt G et al.

Nature Communications, 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

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Loss of DJ-1 function contributes to Parkinson's disease pathogenesis in mice via RACK1-mediated PKC activation and MAO-B upregulation.

Liu LL et al.

Acta Pharmacologica Sinica, 2023

Parkinson's disease - genetic cause.

Cherian A et al.

Current Opinion in Neurology, 2023

Mechanisms of NURR1 Regulation: Consequences for Its Biological Activity and Involvement in Pathology.

García-Yagüe ÁJ et al.

International Journal of Molecular Sciences, 2023

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

Tay YW et al.

Parkinsonism & Related Disorders, 2023

Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.

Chiu CC et al.

Molecular Neurobiology, 2023

Rare Catechol-O-methyltransferase Missense Variants Are Structurally Unstable Proteasome Targets.

Larsen FB et al.

Biochemistry, 2023

PARK7/DJ-1 in microglia: implications in Parkinson's disease and relevance as a therapeutic target.

Lind-Holm Mogensen F et al.

Journal of Neuroinflammation, 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

36825062 (PubMed )
Supplement: supplement_1.docx

DJ-1 promotes energy balance by regulating both mitochondrial and autophagic homeostasis.

De Lazzari F et al.

Neurobiology of Disease, 2023

The Etiology of Parkinson's Disease: New Perspectives from Gene-Environment Interactions.

Bogers JS et al.

Journal of Parkinson's Disease, 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

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

Genetic landscape of early-onset dementia in Hungary.

Csaban D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

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

DJ-1 inhibits microglial activation and protects dopaminergic neurons in vitro and in vivo through interacting with microglial p65.

Lin Z et al.

Cell Death & Disease, 2021

The C terminus of DJ-1 determines its homodimerization, MGO detoxification activity and suppression of ferroptosis.

Jiang L et al.

Acta Pharmacologica Sinica, 2021

KEAP1 Cancer Mutants: A Large-Scale Molecular Dynamics Study of Protein Stability.

Wilson CJ et al.

International Journal of Molecular Sciences, 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

Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.

Avazzadeh S et al.

Brain Sciences, 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

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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."