Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V56E
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PRKN

NM_004562.3:p.V56E

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.

Malik M et al.

Npj Parkinson's Disease, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

The Juvenile Parkinson's Disease Mutation C212Y Impairs Mitochondrial Homeostasis in a Caenorhabditis elegans Model.

Spector E et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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

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

A molecular glue for PRKN/parkin.

Sauvé V et al.

Autophagy, 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

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

Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.

Papagiannakis N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM2_ESM.pdf

Structure of the second phosphoubiquitin-binding site in parkin.

Fakih R et al.

The Journal of Biological Chemistry, 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

α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.

Isonaka R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Yi W et al.

Human Molecular Genetics, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

A resource of variant effect predictions of single nucleotide variants in model organisms.

Wagih O et al.

Molecular Systems Biology, 2018

Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.

Jankovic MZ et al.

Journal of the Neurological Sciences, 2018

Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.

Aguirre JD et al.

The Journal of Biological Chemistry, 2018

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Reale C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Bandrés-Ciga S et al.

Neurobiology of Aging, 2016

PINK1 and Parkin control localized translation of respiratory chain component mRNAs on mitochondria outer membrane.

Gehrke S et al.

Cell Metabolism, 2015

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Identification of a novel motif that affects the conformation and activity of the MARCH1 E3 ubiquitin ligase.

Bourgeois-Daigneault MC et al.

Journal of Cell Science, 2013

Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.

Safadi SS et al.

Biochemistry, 2011

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

SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination.

Trempe JF et al.

Molecular Cell, 2009

A genetic cluster of early onset Parkinson's disease in a Colombian population.

Pineda-Trujillo N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

Pathogenic mutations inactivate parkin by distinct mechanisms.

Henn IH et al.

Journal of Neurochemistry, 2005

Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation.

Sánchez MP et al.

Journal of Alzheimer's Disease : Jad, 2002

Molecular findings in familial Parkinson disease in Spain.

Hoenicka J et al.

Archives of Neurology, 2002

Crystal structure and molecular dynamics simulation of ubiquitin-like domain of murine parkin.

Tomoo K et al.

Biochimica Et Biophysica Acta, 0

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