Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R42P
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PRKN

NM_004562.3:p.R42P

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 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

Parkin mediates the mitochondrial dysfunction through mRpL18.

Ti X et al.

The Journal of Biological Chemistry, 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

A molecular glue for PRKN/parkin.

Sauvé V et al.

Autophagy, 2025

SFXN2 contributes mitochondrial dysfunction-induced apoptosis as a substrate of Parkin.

Luo S et al.

Frontiers in Cellular Neuroscience, 2025

Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.

Hong S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39763553 (PubMed )
Supplement: media-3.pdf

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

Activation of parkin by a molecular glue.

Sauvé V et al.

Nature Communications, 2024

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

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

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

Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.

Sharma K et al.

Molecular Biology Reports, 2024

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

A mutational atlas for Parkin proteostasis.

Clausen L et al.

Nature Communications, 2024

In search for mitochondrial biomarkers of Parkinson's disease: Findings in parkin-mutant human fibroblasts.

Kamienieva I et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Structure-based design and characterization of Parkin-activating mutations.

Stevens MU et al.

Life Science Alliance, 2023

High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy.

Tufi R et al.

Slas Discovery : Advancing Life Sciences R & D, 2023

The Etiology of Parkinson's Disease: New Perspectives from Gene-Environment Interactions.

Bogers JS et al.

Journal of Parkinson's Disease, 2023

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Structure of the second phosphoubiquitin-binding site in parkin.

Fakih R et al.

The Journal of Biological Chemistry, 2022

The Role of NEDD4 E3 Ubiquitin-Protein Ligases in Parkinson's Disease.

Conway JA et al.

Genes, 2022

Benchmarking a highly selective USP30 inhibitor for enhancement of mitophagy and pexophagy.

Rusilowicz-Jones EV et al.

Life Science Alliance, 2022

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK2

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

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

Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.

Madsen DA et al.

Cells, 2021

Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.

Kamienieva I et al.

Translational Neurodegeneration, 2021

Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.

Yu E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Doddato G et al.

Frontiers in Oncology, 2021

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons.

Schwartzentruber A et al.

Scientific Reports, 2020

Tollip coordinates Parkin-dependent trafficking of mitochondrial-derived vesicles.

Ryan TA et al.

The Embo Journal, 2020

Mitochondrial E3 Ubiquitin Ligase Parkin: Relationships with Other Causal Proteins in Familial Parkinson's Disease and Its Substrate-Involved Mouse Experimental Models.

Torii S et al.

International Journal of Molecular Sciences, 2020

Structural analysis of the effects of mutations in Ubl domain of Parkin leading to Parkinson's disease.

Biswas S et al.

Gene, 2020

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Tran J et al.

Npj Parkinson's Disease, 2020

The PARK2 Mutation Associated with Parkinson's Disease Enhances the Vulnerability of Peripheral Blood Lymphocytes to Paraquat.

Ming F et al.

Biomed Research International, 2020

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

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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."