Associated Papers
Cis or trans: a puzzle of Parkin activation mechanism.
Sherawat M et al.
Essays in Biochemistry, 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
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Structural basis for the pathogenicity of parkin catalytic domain mutants.
Wagner JP et al.
The Journal of Biological Chemistry, 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
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
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
Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.
Dulski J et al.
Neurologia I Neurochirurgia Polska, 2024
UBQLN2 and HSP70 participate in Parkin-mediated mitophagy by facilitating outer mitochondrial membrane rupture.
Ma Q et al.
Embo Reports, 2023
Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and Parkin.
Trempe JF et al.
Journal of Molecular Biology, 2023
In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN-Related Parkinson's Disease.
Borsche M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland.
Olszewska DA et al.
Irish Journal of Medical Science, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Contribution of rare variant associations to neurodegenerative disease presentation.
Dilliott AA et al.
Npj Genomic Medicine, 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
The Role of VPS35 in the Pathobiology of Parkinson's Disease.
Sassone J et al.
Cellular and Molecular Neurobiology, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort.
Castelo Rueda MP et al.
Frontiers in Neurology, 2021
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Robak LA et al.
Neurology. Genetics, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 2020
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.
Olszewska DA 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
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
Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.
Jankovic MZ et al.
Journal of the Neurological Sciences, 2018
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting.
Williams ET et al.
Human Molecular Genetics, 2018
The M458L missense mutation disrupts the catalytic properties of Parkin.
Do YJ et al.
Febs Letters, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
A comprehensive computational study on pathogenic mis-sense mutations spanning the RING2 and REP domains of Parkin protein.
Biswas R et al.
Gene, 2017
Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.
Scott TL et al.
Molecular Carcinogenesis, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
Dual Function of Phosphoubiquitin in E3 Activation of Parkin.
Walinda E et al.
The Journal of Biological Chemistry, 2016
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
PARKIN Inactivation Links Parkinson's Disease to Melanoma.
Hu HH et al.
Journal of the National Cancer Institute, 2016
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Huttenlocher J et al.
Human Molecular Genetics, 2015
The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathway.
Gao F et al.
Human Molecular Genetics, 2015
Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease.
Romaní-Aumedes J et al.
Cell Death & Disease, 2014