Associated Papers
Cis or trans: a puzzle of Parkin activation mechanism.
Sherawat M et al.
Essays in Biochemistry, 2026
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
Malik M et al.
Npj Parkinson's Disease, 2026
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Computational association in parkinson's disease SNPs with brain structural and functional alterations.
Subramaniyan S et al.
Neurogenetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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 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
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.
Gu H et al.
Genetics in Medicine Open, 2025
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Capturing the catalytic intermediates of parkin ubiquitination.
Connelly EM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 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
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
Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.
Sharma K et al.
Molecular Biology Reports, 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
Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.
Yuan Y et al.
Frontiers in Neurology, 2024
High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy.
Tufi R et al.
Slas Discovery : Advancing Life Sciences R & D, 2023
Enhanced IRE1α Phosphorylation/Oligomerization-Triggered XBP1 Splicing Contributes to Parkin-Mediated Prevention of SH-SY5Y Cell Death under Nitrosative Stress.
Chiu TL et al.
International Journal of Molecular Sciences, 2023
Mitochondrial quality control in health and in Parkinson's disease.
Eldeeb MA et al.
Physiological Reviews, 2022
PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland.
Olszewska DA et al.
Irish Journal of Medical Science, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
Bryant N et al.
Human Molecular Genetics, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 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
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Yu E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Glutamate-induced excitotoxicity in Parkinson's disease: The role of glial cells.
Iovino L et al.
Journal of Pharmacological Sciences, 2020
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
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
Chaperones and Proteostasis: Role in Parkinson's Disease.
Joshi N et al.
Diseases (basel, Switzerland), 2020
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 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
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
Diefenbach RJ et al.
Cancers, 2019
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