Associated Papers
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 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
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx
A comprehensive computational study on pathogenic mis-sense mutations spanning the RING2 and REP domains of Parkin protein.
Biswas R et al.
Gene, 2017
The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
Hauser DN et al.
Current Protein & Peptide Science, 2017
Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.
Carr J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.
Spratt DE et al.
Nature Communications, 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
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
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