Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C238W
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PRKN

NM_004562.3:p.C238W

Associated Papers

Canonical and alternate mechanisms that regulate ubiquitylation by the E3 ligase parkin.

Basilone NT et al.

Biochemical Society Transactions, 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

40672482 (PubMed )
Supplement: media-1.pdf

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

38553467 (PubMed )
Supplement: 41531_2024_677_MOESM1_ESM.pdf

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › MDS

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

Gialluisi A et al.

Molecular Neurodegeneration, 2021

The Phenotypic Variation of a Parkin-Related Parkinson's Disease Family and the Role of Heterozygosity.

Stark RS et al.

Movement Disorders Clinical Practice, 2019

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

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

Zanellati MC et al.

Frontiers in Genetics, 2015

Microtubule destabilization is shared by genetic and idiopathic Parkinson's disease patient fibroblasts.

Cartelli D et al.

Plos One, 2012

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

Parkin analysis in early onset Parkinson's disease.

Sironi F et al.

Parkinsonism & Related Disorders, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."