Associated Papers
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.
Shan L et al.
Pediatric Research, 2025
Genetic Variants Associated with Breast Cancer Are Detected by Whole-Exome Sequencing in Vietnamese Patients.
Van Tung N et al.
Diagnostics (basel, Switzerland), 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
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Paradoxical Gait Response to Levodopa in Parkin-Gene-Related Early-Onset Parkinson's Disease: Dopa Worsening Dystonia.
Mehta A et al.
Movement Disorders Clinical Practice, 2024
Early-onset Parkinson's disease with mutations in both the PRKN gene and the APOB gene: A case report.
Bing S et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.
Yuan Y et al.
Frontiers in Neurology, 2024
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.
Si L et al.
Neurogenetics, 2023
The Ubiquitin Proteasome System as a Therapeutic Area in Parkinson's Disease.
Suresh K et al.
Neuromolecular Medicine, 2023
A homozygous PRKN-associated juvenile Parkinson's disease with pregnancy in China.
Li HX et al.
Frontiers in Neurology, 2023
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.
Yang J et al.
Frontiers in Oncology, 2023
A very early onset of juvenile parkinsonism.
Magistrelli L et al.
Journal of Neurology, 2022
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.
Hua P et al.
Frontiers in Aging Neuroscience, 2022
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.
Jiang Y et al.
Brain and Behavior, 2020
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.
Zhao Y et al.
Brain : a Journal of Neurology, 2020
Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson's disease.
Li T et al.
Bioscience Reports, 2020
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Yuan L et al.
Frontiers in Neurology, 2020
Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.
Bayne AN et al.
Cellular and Molecular Life Sciences : Cmls, 2019
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Lin CH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.
Chen H et al.
Neuroscience Letters, 2016
The ubiquitin signal and autophagy: an orchestrated dance leading to mitochondrial degradation.
Yamano K et al.
Embo Reports, 2016
Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.
Yamano K et al.
The Journal of Biological Chemistry, 2015
Mechanism of phospho-ubiquitin-induced PARKIN activation.
Wauer T et al.
Nature, 2015
Erratum: Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease.
Chu MK et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.
Li H et al.
Journal of the Neurological Sciences, 2014
Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease.
Chu MK et al.
Journal of Clinical Neurology (seoul, Korea), 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Structure of the human Parkin ligase domain in an autoinhibited state.
Wauer T et al.
The Embo Journal, 2013