Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A168P
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PINK1

NM_032409.3:p.A168P

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

A molecular simulation study of the clinical G409V mutant in PINK1 associated with early-onset Parkinson's disease.

Lo HH et al.

International Journal of Biological Macromolecules, 2024

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

Genetics of Parkinson's disease.

Cherian A et al.

Acta Neurologica Belgica, 2020

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

Heo JM et al.

Science Advances, 2019

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.

Moutaoufik MT et al.

Iscience, 2019

31536960 (PubMed )
Supplement: mmc1.pdf

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

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling.

Malty RH et al.

Cell Systems, 2017

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

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathway.

Szargel R et al.

Human Molecular Genetics, 2016

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

Lu W et al.

Nature Communications, 2014

Ubiquitin is phosphorylated by PINK1 to activate parkin.

Koyano F et al.

Nature, 2014

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

Okatsu K et al.

The Journal of Biological Chemistry, 2013

PINK1 regulates histone H3 trimethylation and gene expression by interaction with the polycomb protein EED/WAIT1.

Berthier A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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

Iguchi M et al.

The Journal of Biological Chemistry, 2013

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

Narendra DP et al.

Human Molecular Genetics, 2013

Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.

Song S et al.

The Journal of Biological Chemistry, 2013

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.

Rango M et al.

Mitochondrion, 2013

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

Sim CH et al.

Human Mutation, 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 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria.

Okatsu K et al.

Nature Communications, 2012

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

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

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin.

Narendra DP et al.

Plos Biology, 2010

Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.

Ferraris A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.

Papa S et al.

Biochimica Et Biophysica Acta, 2009

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.

Fiorio M et al.

Journal of Neurology, 2008

Loss of PINK1 function affects development and results in neurodegeneration in zebrafish.

Anichtchik O et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

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

Mills RD et al.

Journal of Neurochemistry, 2008

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

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

Silvestri L et al.

Human Molecular Genetics, 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

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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."