Associated Papers
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.
Sharma K et al.
Molecular Biology Reports, 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
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 2021
Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.
Biswas S et al.
Applied Biochemistry and Biotechnology, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.
Kamienieva I et al.
Translational Neurodegeneration, 2021
Glutamate-induced excitotoxicity in Parkinson's disease: The role of glial cells.
Iovino L et al.
Journal of Pharmacological Sciences, 2020
Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.
Halder T et al.
The Indian Journal of Medical Research, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.
González-Casacuberta I et al.
Frontiers in Neuroscience, 2019
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
Parkinson's disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons.
Zhu M et al.
Bmc Biology, 2018
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B et al.
Clinical Genetics, 2018
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
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.
Im E et al.
Open Biology, 2016
Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.
Yamano K et al.
The Journal of Biological Chemistry, 2015
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.
Sanyal J et al.
Journal of Human Genetics, 2015
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
Fiesel FC et al.
Human Mutation, 2015
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
Fiala O et al.
Plos One, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Angeli A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Structure of the human Parkin ligase domain in an autoinhibited state.
Wauer T et al.
The Embo Journal, 2013
Primary progressive multiple sclerosis developing in the context of young onset Parkinson's disease.
Sadnicka A et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2013
Neddylation positively regulates the ubiquitin E3 ligase activity of parkin.
Um JW et al.
Journal of Neuroscience Research, 2012
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
Haylett WL et al.
Parkinsonism & Related Disorders, 2012
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
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.
Geisler S et al.
Nature Cell Biology, 2010
Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD.
Wu YR et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
Veeriah S et al.
Nature Genetics, 2010
Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease.
Fiala O et al.
Neuro Endocrinology Letters, 2010
SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination.
Trempe JF et al.
Molecular Cell, 2009
Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair.
Rothfuss O et al.
Human Molecular Genetics, 2009
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.
Beasley SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.
Biswas A et al.
Parkinsonism & Related Disorders, 2006