Associated Papers
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
Malik M et al.
Npj Parkinson's Disease, 2026
Canonical and alternate mechanisms that regulate ubiquitylation by the E3 ligase parkin.
Basilone NT et al.
Biochemical Society Transactions, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.
Clausen L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Papagiannakis N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W et al.
Brain : a Journal of Neurology, 2022
New insights on familial colorectal cancer type X syndrome.
Garcia FAO et al.
Scientific Reports, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Generation of three induced pluripotent stem cell lines from a Parkinson's disease patient with mutant PARKIN (p. C253Y).
Tariq M et al.
Stem Cell Research, 2020
Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations.
Chen M et al.
Stem Cell Research, 2020
The PARK2 Mutation Associated with Parkinson's Disease Enhances the Vulnerability of Peripheral Blood Lymphocytes to Paraquat.
Ming F et al.
Biomed Research International, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.
Jankovic MZ et al.
Journal of the Neurological Sciences, 2018
Parkin absence accelerates microtubule aging in dopaminergic neurons.
Cartelli D et al.
Neurobiology of Aging, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.
Zeng XS et al.
Frontiers in Aging Neuroscience, 2018
Successful treatment of Juvenile parkinsonism with bilateral subthalamic deep brain stimulation in a 14-year-old patient with parkin gene mutation.
Genç G et al.
Parkinsonism & Related Disorders, 2016
Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings.
Anderson-Mooney AJ et al.
Clinical Neurology and Neurosurgery, 2016
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.
Sironi F et al.
Neuroscience Letters, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Structure of the human Parkin ligase domain in an autoinhibited state.
Wauer T et al.
The Embo Journal, 2013
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
Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.
Hristova VA et al.
The Journal of Biological Chemistry, 2009
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.
Wang Y et al.
Archives of Neurology, 2008
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Clark LN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Porcine Parkin: molecular cloning of PARK2 cDNA, expression analysis, and identification of a splicing variant.
Bjerre D et al.
Biochemical and Biophysical Research Communications, 2006
Genetic contributions to Parkinson's disease.
Huang Y et al.
Brain Research. Brain Research Reviews, 2004
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
Oliveira SA et al.
Annals of Neurology, 2003