Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E240K
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PINK1

NM_032409.3:p.E240K

Associated Papers

AI-augmented prediction of high-risk PINK1 variants associated with Parkinson's disease: integrating multilayered bioinformatics, MD simulation, and deep learning.

Rehman HU et al.

Methods (san Diego, Calif.), 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 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

Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.

Herbert A

Genes and Immunity, 2024

Mechanism of human PINK1 activation at the TOM complex in a reconstituted system.

Raimi OG et al.

Science Advances, 2024

PTEN-induced kinase 1 (PINK1) and Parkin: Unlocking a mitochondrial quality control pathway linked to Parkinson's disease.

Agarwal S et al.

Current Opinion in Neurobiology, 2022

Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.

Kakade P et al.

Open Biology, 2022

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

Ma KY et al.

Npj Parkinson's Disease, 2021

Integrated proteogenetic analysis reveals the landscape of a mitochondrial-autophagosome synapse during PARK2-dependent mitophagy.

Heo JM et al.

Science Advances, 2019

New insights into the structure of PINK1 and the mechanism of ubiquitin phosphorylation.

Rasool S et al.

Critical Reviews in Biochemistry and Molecular Biology, 2018

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

Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations.

Kumar A et al.

Elife, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

PINK1 deficiency enhances autophagy and mitophagy induction.

Gómez-Sánchez R et al.

Molecular & Cellular Oncology, 2016

A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment.

Okatsu K et al.

The Journal of Biological Chemistry, 2013

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

Iguchi M et al.

The Journal of Biological Chemistry, 2013

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

Matsuda N et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2012

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria.

Okatsu K et al.

Nature Communications, 2012

Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations.

Woodroof HI et al.

Open Biology, 2011

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

Cardona F et al.

Human Mutation, 2011

The genetics of Parkinson disease.

Bekris LM et al.

Journal of Geriatric Psychiatry and Neurology, 2010

Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells.

Maj MC et al.

Biochemical and Biophysical Research Communications, 2010

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

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

Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism.

Chu CT

Biochimica Et Biophysica Acta, 2010

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

Mills RD et al.

Journal of Neurochemistry, 2008

PINK1 mutants associated with recessive Parkinson's disease are defective in inhibiting mitochondrial release of cytochrome c.

Wang HL et al.

Neurobiology of Disease, 2007

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases.

Mandemakers W et al.

Journal of Cell Science, 2007

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

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

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.

Petit A et al.

The Journal of Biological Chemistry, 2005

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

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

Rogaeva E et al.

Archives of Neurology, 2004

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