Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R464H
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PINK1

NM_032409.3:p.R464H

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Transmembrane Parkinson's disease mutation of PINK1 leads to altered mitochondrial anchoring.

Brassard R et al.

The Journal of Biological Chemistry, 2025

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

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

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Fernández MV et al.

Plos Genetics, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder.

Lu W et al.

Nature Communications, 2014

Parkin-catalyzed ubiquitin-ester transfer is triggered by PINK1-dependent phosphorylation.

Iguchi M et al.

The Journal of Biological Chemistry, 2013

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Cardona F et al.

Human Mutation, 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

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.

Sim CH et al.

Human Molecular Genetics, 2006

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Zadikoff C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C et al.

European Journal of Human Genetics : Ejhg, 2005

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V et al.

Neurology, 2005

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM et al.

Annals of Neurology, 2004

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