Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.L172Q
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PARK7

NM_007262.5:p.L172Q

Associated Papers

Parkinsonism-dystonia syndrome due to a PARK7 gene mutation.

Calvano A et al.

Clinical Parkinsonism & Related Disorders, 2026

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

Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.

Yuan Y et al.

Frontiers in Neurology, 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

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

Kim J et al.

Genes, 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

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

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

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

Repici M et al.

Journal of Clinical Medicine, 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

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Piston D et al.

Human Molecular Genetics, 2017

Expression of DJ-1 in Neurodegenerative Disorders.

Antipova D et al.

Advances in Experimental Medicine and Biology, 2017

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

Taipa R et al.

Brain : a Journal of Neurology, 2016

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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."