Associated Papers
Computational Study of the Activation Mechanism of Wild-Type Parkin and Its Clinically Relevant Mutant.
Cinviz ZN et al.
Acs Chemical Neuroscience, 2025
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Franz TM et al.
Neurologia I Neurochirurgia Polska, 2025
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ et al.
Acta Neuropathologica, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
The hexosamine biosynthetic pathway rescues lysosomal dysfunction in Parkinson's disease patient iPSC derived midbrain neurons.
Wani WY et al.
Nature Communications, 2024
Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.
Hattori N et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2023
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
Association of PARK-2 Non-synonyms Polymorphisms and Their In Silico Validation Among North Indian Colorectal Cancer Patients.
Bhat ZI et al.
Journal of Gastrointestinal Cancer, 2022
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 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
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.
Brewer K et al.
Endocrine Connections, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
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
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
Ton ND et al.
Molecular Genetics & Genomic Medicine, 2020
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease.
Sanyal J et al.
Cellular and Molecular Neurobiology, 2020
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG et al.
Bmc Medical Genetics, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Early-Onset Parkinson Disease Screening in Patients From Nigeria.
Milanowski LM et al.
Frontiers in 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
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Parkin gene mutations are not common, but its epigenetic inactivation is a frequent event and predicts poor survival in advanced breast cancer patients.
Wahabi K et al.
Bmc Cancer, 2019
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.
Fava VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau VV et al.
International Journal of Molecular Sciences, 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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.
Giau VV et al.
Clinical Interventions in Aging, 2018
Twenty years since the discovery of the parkin gene.
Hattori N et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2017
Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.
Wang D et al.
Scientific Reports, 2016
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.
Gorostidi A et al.
Molecular Diagnosis & Therapy, 2016
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Huttenlocher J et al.
Human Molecular Genetics, 2015
Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.
Sanyal J et al.
Journal of Human Genetics, 2015
Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2015
Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.
Pimentel MM et al.
Parkinsonism & Related Disorders, 2015
Null genotype of GSTT1 contributes to increased Parkinson's disease risk in Caucasians: evidence from a meta-analysis.
Wang D et al.
Molecular Biology Reports, 2014
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
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
Mans DA et al.
The Journal of Pathology, 2013
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
de Mena L et al.
Journal of Molecular Neuroscience : Mn, 2013