Associated Papers
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
Parkin deficiency promotes liver cancer metastasis by TMEFF1 transcription activation via TGF-β/Smad2/3 pathway.
Su Q et al.
Acta Pharmacologica Sinica, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM1_ESM.pdf
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 2021
34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.
Fava VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.
Lin DC et al.
Cancer Research, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
Veeriah S et al.
Nature Genetics, 2010
Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.
Biswas A et al.
Parkinsonism & Related Disorders, 2006
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