Associated Papers
Viral infection and brain inflammation with seizures in PARK7 deficiency.
Lønskov J et al.
Journal of Human Immunity, 2026
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 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
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
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 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
Community-based genetic study of Parkinson's disease in Estonia.
Muldmaa M et al.
Acta Neurologica Scandinavica, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Gauging the role and impact of drug interactions and repurposing in neurodegenerative disorders.
Khatri DK et al.
Current Research in Pharmacology and Drug Discovery, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
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
Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control.
Strobbe D et al.
Frontiers in Molecular Neuroscience, 2018
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.
Lee EB et al.
Acta Neuropathologica, 2017
Expression of DJ-1 in Neurodegenerative Disorders.
Antipova D et al.
Advances in Experimental Medicine and Biology, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.
Abbas MM et al.
Parkinsonism & Related Disorders, 2016
Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.
Erer S et al.
Clinical Neurology and Neurosurgery, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S et al.
Neurobiology of Aging, 2016
Parkinson's disease, genetic variability and the Faroe Islands.
Petersen MS et al.
Parkinsonism & Related Disorders, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Parkinson's Disease in Saudi Patients: A Genetic Study.
Al-Mubarak BR et al.
Plos One, 2015
The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.
Bai H et al.
Genome Biology and Evolution, 2014
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.
Bozi M et al.
European Journal of Neurology, 2014
Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.
Monroy-Jaramillo N et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2014
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.
Sironi F et al.
Neuroscience Letters, 2013
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
Parkinson's disease-associated DJ-1 mutations impair mitochondrial dynamics and cause mitochondrial dysfunction.
Wang X et al.
Journal of Neurochemistry, 2012
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
DJ-1 variants in Indian Parkinson's disease patients.
Sadhukhan T et al.
Disease Markers, 2012
Bridging molecular genetics and biomarkers in lewy body and related disorders.
Ho GJ et al.
International Journal of Alzheimer's Disease, 2011
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
DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders.
Kahle PJ et al.
Free Radical Biology & Medicine, 2009
Oxidative status of DJ-1-dependent activation of dopamine synthesis through interaction of tyrosine hydroxylase and 4-dihydroxy-L-phenylalanine (L-DOPA) decarboxylase with DJ-1.
Ishikawa S et al.
The Journal of Biological Chemistry, 2009
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.
Tarantino P et al.
Parkinsonism & Related Disorders, 2009
[Association of the DJ-1 gene polymorphism with sporadic Parkinson's disease in Sichuan province of China].
Chen W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Molecular basis for the structural instability of human DJ-1 induced by the L166P mutation associated with Parkinson's disease.
Anderson PC et al.
Biochemistry, 2008
DJ-1 modulates UV-induced oxidative stress signaling through the suppression of MEKK1 and cell death.
Mo JS et al.
Cell Death and Differentiation, 2008