Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Forecasting most deleterious nsSNPs in human TLR9 gene and their cumulative impact on biophysical features of the protein using in silico approaches.
Gautam H et al.
Systems Biology in Reproductive Medicine, 2023
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
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
Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and Cancer.
Weil R et al.
Frontiers in Immunology, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Mechanisms of mitophagy: PINK1, Parkin, USP30 and beyond.
Bingol B et al.
Free Radical Biology & Medicine, 2016
Dual Function of Phosphoubiquitin in E3 Activation of Parkin.
Walinda E et al.
The Journal of Biological Chemistry, 2016
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Pentsova EI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
The ubiquitin signal and autophagy: an orchestrated dance leading to mitochondrial degradation.
Yamano K et al.
Embo Reports, 2016
Ubiquitin phosphorylation in Parkinson's disease: Implications for pathogenesis and treatment.
Chin LS et al.
Translational Neurodegeneration, 2016
Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.
Yamano K et al.
The Journal of Biological Chemistry, 2015
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
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.
Macedo MG et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009