Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R33Q
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PINK1

NM_032409.3:p.R33Q

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Naturally occurring hyperactive variants of human parkin.

Huq TS et al.

Communications Biology, 2024

39117722 (PubMed )
Supplement: 42003_2024_6656_MOESM1_ESM.pdf

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

Stevens MU et al.

Life Science Alliance, 2023

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

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

Mechanisms of mitophagy: PINK1, Parkin, USP30 and beyond.

Bingol B et al.

Free Radical Biology & Medicine, 2016

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 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

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

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

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

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

Spratt DE et al.

Nature Communications, 2013

Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.

Petruzzella V et al.

Advances in Experimental Medicine and Biology, 2012

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

Pankratz N et al.

Neurology, 2009

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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."