Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V170G
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PINK1

NM_032409.3:p.V170G

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

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

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

Ma KY et al.

Npj Parkinson's Disease, 2021

Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.

Avazzadeh S et al.

Brain Sciences, 2021

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal of Neurology, 2020

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Tran J et al.

Npj Parkinson's Disease, 2020

Genetic background and outcome of Deep Brain Stimulation in Parkinson's disease.

Rizzone MG et al.

Parkinsonism & Related Disorders, 2019

Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Artusi CA et al.

Jama Network Open, 2019

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Germer EL et al.

Frontiers in Neurology, 2019

31920912 (PubMed )
Supplement: Data_Sheet_1.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

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

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency.

Vos M et al.

The Journal of Cell Biology, 2017

Application of human induced pluripotent stem cells for modeling and treating neurodegenerative diseases.

Payne NL et al.

New Biotechnology, 2015

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

Morais VA et al.

Science (new York, N.y.), 2014

Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons.

Rakovic A et al.

The Journal of Biological Chemistry, 2013

Stem cells as in vitro model of Parkinson's disease.

Martínez-Morales PL et al.

Stem Cells International, 2012

The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations.

Hilker R et al.

Plos One, 2012

Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease.

Yao Z et al.

Journal of Cell Science, 2011

Genetic mutations and functions of PINK1.

Kawajiri S et al.

Trends in Pharmacological Sciences, 2011

Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells.

Seibler P et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.

Rakovic A et al.

Plos One, 2011

Mitochondrial dynamics in cell death and neurodegeneration.

Cho DH et al.

Cellular and Molecular Life Sciences : Cmls, 2010

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Rakovic A et al.

Human Molecular Genetics, 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 mutations and differential effects on mitochondrial function.

Tan EK

Experimental Neurology, 2010

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.

Grünewald A et al.

Experimental Neurology, 2009

Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.

Srikanth P et al.

Journal of Neurogenetics, 0

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