Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R42P
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PINK1

NM_032409.3:p.R42P

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

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

Activation of parkin by a molecular glue.

Sauvé V et al.

Nature Communications, 2024

39300082 (PubMed )
Supplement: 41467_2024_51889_MOESM2_ESM.pdf

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 of the second phosphoubiquitin-binding site in parkin.

Fakih R et al.

The Journal of Biological Chemistry, 2022

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

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

Kamienieva I et al.

Translational Neurodegeneration, 2021

Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 2019

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

Yi W et al.

Human Molecular Genetics, 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

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 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

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

Gautier CA et al.

Human Molecular Genetics, 2016

Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.

Bertolin G et al.

Cell Death and Differentiation, 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

Parkin structure and function.

Seirafi M et al.

The Febs Journal, 2015

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

The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance.

Bertolin G et al.

Autophagy, 2013

[Role of mitophagy in hereditary Parkinson's disease].

Matsuda N et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2012

Role of PINK1 binding to the TOM complex and alternate intracellular membranes in recruitment and activation of the E3 ligase Parkin.

Lazarou M et al.

Developmental Cell, 2012

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

PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy.

Shiba-Fukushima K et al.

Scientific Reports, 2012

PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.

Ghazavi F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.

Matsuda N et al.

The Journal of Cell Biology, 2010

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.

Geisler S et al.

Nature Cell Biology, 2010

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin.

Narendra DP et al.

Plos Biology, 2010

Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-kappaB signaling.

Sha D et al.

Human Molecular Genetics, 2010

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Sahashi K et al.

Nucleic Acids Research, 2007

17726045 (PubMed )
Supplement: nar_gkm647_1.pdf

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.

Hampe C et al.

Human Molecular Genetics, 2006

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

Sriram SR et al.

Human Molecular Genetics, 2005

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

Molecular pathways to neurodegeneration.

Bossy-Wetzel E et al.

Nature Medicine, 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."