Associated Papers
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
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
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
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
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
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Dual Function of Phosphoubiquitin in E3 Activation of Parkin.
Walinda E et al.
The Journal of Biological Chemistry, 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
A recurrent mutation in PARK2 is associated with familial lung cancer.
Xiong D et al.
American Journal of Human Genetics, 2015
The associations between Parkinson's disease and cancer: the plot thickens.
Feng DD et al.
Translational Neurodegeneration, 2015
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
Structure of parkin reveals mechanisms for ubiquitin ligase activation.
Trempe JF et al.
Science (new York, N.y.), 2013
[Role of mitophagy in hereditary Parkinson's disease].
Matsuda N et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 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 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
Matsuda N et al.
The Journal of Cell Biology, 2010
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
Veeriah S et al.
Nature Genetics, 2010
Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.
Bardien S et al.
Parkinsonism & Related Disorders, 2009
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.
Wang Y et al.
Archives of Neurology, 2008
Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro.
Matsuda N et al.
The Journal of Biological Chemistry, 2006
Alterations in the solubility and intracellular localization of parkin by several familial Parkinson's disease-linked point mutations.
Wang C et al.
Journal of Neurochemistry, 2005
Parkin-associated Parkinson's disease.
von Coelln R et al.
Cell and Tissue Research, 2004
Genetic contributions to Parkinson's disease.
Huang Y et al.
Brain Research. Brain Research Reviews, 2004
Molecular pathways to neurodegeneration.
Bossy-Wetzel E et al.
Nature Medicine, 2004
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
Oliveira SA et al.
Annals of Neurology, 2003
[Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease].
Corti O et al.
Journal De La Societe De Biologie, 2002
Parkin and the molecular pathways of Parkinson's disease.
Giasson BI et al.
Neuron, 2001
New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.
Terreni L et al.
Neurology, 2001
Association between early-onset Parkinson's disease and mutations in the parkin gene.
Lücking CB et al.
The New England Journal of Medicine, 2000