Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.M458L
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PRKN

NM_004562.3:p.M458L

Associated Papers

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

40672482 (PubMed )
Supplement: media-1.pdf

Naturally occurring hyperactive variants of human parkin.

Huq TS et al.

Communications Biology, 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

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Genetic Study of Early Onset Parkinson's Disease in Cyprus.

Abu Manneh R et al.

International Journal of Molecular Sciences, 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

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

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

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

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

The M458L missense mutation disrupts the catalytic properties of Parkin.

Do YJ et al.

Febs Letters, 2018

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Brüggemann N et al.

Parkinsonism & Related Disorders, 2009

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J et al.

Journal of Medical Genetics, 2009

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