Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R33Q
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PRKN

NM_004562.3:p.R33Q

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Expanding the utility of variant effect predictions with phenotype-specific models.

Stein D et al.

Nature Communications, 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

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

Naturally occurring hyperactive variants of human parkin.

Huq TS et al.

Communications Biology, 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

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

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

Stevens MU et al.

Life Science Alliance, 2023

The landscape of tolerated genetic variation in humans and primates.

Gao H et al.

Biorxiv : the Preprint Server for Biology, 2023

37205491 (PubMed )
Supplement: media-2.xlsx › Sheet1

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

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

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

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

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

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

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Structure-guided mutagenesis reveals a hierarchical mechanism of Parkin activation.

Tang MY et al.

Nature Communications, 2017

28276439 (PubMed )
Supplement: ncomms14697-s3.pdf

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 2016

Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.

Im E et al.

Open Biology, 2016

Probes of ubiquitin E3 ligases enable systematic dissection of parkin activation.

Pao KC et al.

Nature Chemical Biology, 2016

Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity.

Ham SJ et al.

The Journal of Biological Chemistry, 2016

Disruption of the autoinhibited state primes the E3 ligase parkin for activation and catalysis.

Kumar A et al.

The Embo Journal, 2015

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Li X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

Fiesel FC et al.

Human Mutation, 2015

Binding to serine 65-phosphorylated ubiquitin primes Parkin for optimal PINK1-dependent phosphorylation and activation.

Kazlauskaite A et al.

Embo Reports, 2015

Parkin structure and function.

Seirafi M et al.

The Febs Journal, 2015

Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65.

Kazlauskaite A et al.

The Biochemical Journal, 2014

Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity.

Kazlauskaite A et al.

Open Biology, 2014

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

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

Oczkowska A et al.

Current Genomics, 2013

A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.

Spratt DE et al.

Nature Communications, 2013

Autoregulation of Parkin activity through its ubiquitin-like domain.

Chaugule VK et al.

The Embo Journal, 2011

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

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Pankratz N et al.

Neurology, 2009

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Macedo MG et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Pathogenic mutations inactivate parkin by distinct mechanisms.

Henn IH et al.

Journal of Neurochemistry, 2005

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Oliveira SA et al.

Annals of Neurology, 2003

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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."