Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G309D
Back to variants list

PINK1

NM_032409.3:p.G309D

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

Ubiquitin-Specific Protease 20 Promotes CCCP-Induced Mitophagy Through Deubiquitination and Stabilization of Serine/Threonine Protein Kinase PINK1.

Park GH et al.

Journal of Molecular Neuroscience : Mn, 2025

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

Melatonin-Mediated Nrf2 Activation as a Potential Therapeutic Strategy in Mutation-Driven Neurodegenerative Diseases.

Íñigo-Catalina L et al.

Antioxidants (basel, Switzerland), 2025

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

Subramaniyan S et al.

Neurogenetics, 2025

A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family.

Wang B et al.

Neurogenetics, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.

Padhan P et al.

Molecular and Cellular Neurosciences, 2025

Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain.

Bagnoli E et al.

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

Decoding mitochondrial quality control mechanisms: Identifying treatment targets for enhanced cellular health.

Wankhede NL et al.

Mitochondrion, 2024

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

Raimi OG et al.

Science Advances, 2024

VarChat: the generative AI assistant for the interpretation of human genomic variations.

De Paoli F et al.

Bioinformatics (oxford, England), 2024

The Etiology of Parkinson's Disease: New Perspectives from Gene-Environment Interactions.

Bogers JS et al.

Journal of Parkinson's Disease, 2023

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Cell Biology of Parkin: Clues to the Development of New Therapeutics for Parkinson's Disease.

Patel J et al.

Cns Drugs, 2022

The role of tyrosine hydroxylase-dopamine pathway in Parkinson's disease pathogenesis.

Zhou ZD et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Molecular Pathways Involved in LRRK2-Linked Parkinson's Disease: A Systematic Review.

Ravinther AI et al.

International Journal of Molecular Sciences, 2022

ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines.

Radtke F et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2022

Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism.

Huang Y et al.

Nature Communications, 2022

Mitochondria in neurodegeneration.

Chu CT

Current Opinion in Physiology, 2022

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

Disruption of Mitochondrial Homeostasis: The Role of PINK1 in Parkinson's Disease.

Vizziello M et al.

Cells, 2021

The PINK1 repertoire: Not just a one trick pony.

Pollock L et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2021

Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.

Subrahmanian N et al.

Brain Research, 2021

Cleaved PINK1 induces neuronal plasticity through PKA-mediated BDNF functional regulation.

Soman SK et al.

Journal of Neuroscience Research, 2021

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Update on the association between alpha-synuclein and tau with mitochondrial dysfunction: Implications for Parkinson's disease.

Feng ST et al.

The European Journal of Neuroscience, 2021

PINK1: A Bridge between Mitochondria and Parkinson's Disease.

Gonçalves FB et al.

Life (basel, Switzerland), 2021

PINK1 Alleviates Cognitive Impairments via Attenuating Pathological Tau Aggregation in a Mouse Model of Tauopathy.

Jiang XJ et al.

Frontiers in Cell and Developmental Biology, 2021

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.

Quinn PMJ et al.

Acta Neuropathologica Communications, 2020

PINK1 phosphorylates Drp1S616 to regulate mitophagy-independent mitochondrial dynamics.

Han H et al.

Embo Reports, 2020

Mitochondrial biology in airway pathogenesis and the role of NRF2.

Cho HY et al.

Archives of Pharmacal Research, 2020

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

Tran J et al.

Npj Parkinson's Disease, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Targeting mRNA translation in Parkinson's disease.

Correddu D et al.

Drug Discovery Today, 2019

Mitochondrial dysfunction and oxidative stress in induced pluripotent stem cell models of Parkinson's disease.

Bose A et al.

The European Journal of Neuroscience, 2019

Genetically engineered animal models of Parkinson's disease: From worm to rodent.

Breger LS et al.

The European Journal of Neuroscience, 2019

Molecular targets for modulating the protein translation vital to proteostasis and neuron degeneration in Parkinson's disease.

Zhou ZD et al.

Translational Neurodegeneration, 2019

Chemical Strategies for Activating PINK1, a Protein Kinase Mutated in Parkinson's Disease.

Lambourne OA et al.

Chembiochem : a European Journal of Chemical Biology, 2018

The role of Nrf2 signaling in counteracting neurodegenerative diseases.

Dinkova-Kostova AT et al.

The Febs Journal, 2018

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

1–50 of 196 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."