Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A46P
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PRKN

NM_004562.3:p.A46P

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

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

Safreena N et al.

Biochemical Pharmacology, 2024

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.

Saito R et al.

Acta Neuropathologica Communications, 2022

36476347 (PubMed )
Supplement: 40478_2022_1486_MOESM1_ESM.pdf

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

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

Biswas S et al.

Gene, 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

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-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

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

Quantitative proteomics reveal a feedforward mechanism for mitochondrial PARKIN translocation and ubiquitin chain synthesis.

Ordureau A et al.

Molecular Cell, 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

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

Parkin-associated Parkinson's disease.

von Coelln R et al.

Cell and Tissue Research, 2004

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

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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."