Associated Papers
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 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
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Structural basis for the pathogenicity of parkin catalytic domain mutants.
Wagner JP et al.
The Journal of Biological Chemistry, 2025
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Mechanism of phospho-Ubls' specificity and conformational changes that regulate Parkin activity.
Lenka DR et al.
Structure (london, England : 1993), 2024
Pediatric-onset PRKN disease: New insights into an understudied population.
Gonul Oner O et al.
Journal of Parkinson's Disease, 2024
Activation of parkin by a molecular glue.
Sauvé V et al.
Nature Communications, 2024
Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans.
Lenka DR et al.
Elife, 2024
Naturally occurring hyperactive variants of human parkin.
Huq TS et al.
Communications Biology, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L 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
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.
Zanon A et al.
Journal of Translational Medicine, 2024
Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.
Dulski J et al.
Neurologia I Neurochirurgia Polska, 2024
Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and Parkin.
Trempe JF et al.
Journal of Molecular Biology, 2023
Structure-based design and characterization of Parkin-activating mutations.
Stevens MU et al.
Life Science Alliance, 2023
Mitochondrial quality control in health and in Parkinson's disease.
Eldeeb MA et al.
Physiological Reviews, 2022
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
Structural basis for feedforward control in the PINK1/Parkin pathway.
Sauvé V et al.
The Embo Journal, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.
Santos-Lobato BL et al.
Arquivos De Neuro-psiquiatria, 2021
Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.
Milanowski ŁM et al.
Parkinsonism & Related Disorders, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
MITOL promotes cell survival by degrading Parkin during mitophagy.
Shiiba I et al.
Embo Reports, 2021
Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.
Madsen DA et al.
Cells, 2021
Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.
Kamienieva I et al.
Translational Neurodegeneration, 2021
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Chaperones and Proteostasis: Role in Parkinson's Disease.
Joshi N et al.
Diseases (basel, Switzerland), 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
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
Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation.
Condos TE et al.
The Embo Journal, 2018
Parkin deficiency modulates NLRP3 inflammasome activation by attenuating an A20-dependent negative feedback loop.
Mouton-Liger F et al.
Glia, 2018
Mechanism of parkin activation by phosphorylation.
Sauvé V et al.
Nature Structural & Molecular Biology, 2018
Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.
Aguirre JD et al.
The Journal of Biological Chemistry, 2018
Building and decoding ubiquitin chains for mitophagy.
Harper JW et al.
Nature Reviews. Molecular Cell Biology, 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
PINK1 and Parkin: emerging themes in mitochondrial homeostasis.
McWilliams TG et al.
Current Opinion in Cell Biology, 2017
Dual Function of Phosphoubiquitin in E3 Activation of Parkin.
Walinda E et al.
The Journal of Biological Chemistry, 2016