Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q126P
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PINK1

NM_032409.3:p.Q126P

Associated Papers

Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.

Drwesh L et al.

Npj Parkinson's Disease, 2025

40954161 (PubMed )
Supplement: 41531_2025_1115_MOESM2_ESM.xlsx › Depolarization_quantification

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

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

Raimi OG et al.

Science Advances, 2024

Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress.

Eldeeb MA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

PINK1-Dependent Mitophagy Inhibits Elevated Ubiquitin Phosphorylation Caused by Mitochondrial Damage.

Lambourne OA et al.

Journal of Medicinal Chemistry, 2023

The role of the individual TOM subunits in the association of PINK1 with depolarized mitochondria.

Maruszczak KK et al.

Journal of Molecular Medicine (berlin, Germany), 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

Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors.

Bus C et al.

Iscience, 2020

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.

Quinn PMJ et al.

Acta Neuropathologica Communications, 2020

Brain mitochondrial impairment in early-onset Parkinson's disease with or without PINK1 mutation.

Rango M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 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

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

Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1.

van der Merwe C et al.

The European Journal of Neuroscience, 2015

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

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

Sim CH et al.

Human Mutation, 2012

Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.

Scornaienchi V et al.

Parkinsonism & Related Disorders, 2012

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

Cardona F et al.

Human Mutation, 2011

The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.

Geisler S et al.

Autophagy, 2010

Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism.

Chu CT

Biochimica Et Biophysica Acta, 2010

PINK1 mutations and differential effects on mitochondrial function.

Tan EK

Experimental Neurology, 2010

Mitochondrial dysfunction in the limelight of Parkinson's disease pathogenesis.

Banerjee R et al.

Biochimica Et Biophysica Acta, 2009

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

Prestel J et al.

Journal of Neurology, 2008

Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin.

Exner N et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

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