Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G411S
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PINK1

NM_032409.3:p.G411S

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

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

41277110 (PubMed )
Supplement: KAUP_A_2581217_SM7038.pdf

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

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

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

Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.

Dulski J et al.

Neurologia I Neurochirurgia Polska, 2024

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

Trinh J et al.

Brain : a Journal of Neurology, 2023

Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and Parkin.

Trempe JF et al.

Journal of Molecular Biology, 2023

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover.

Fiesel FC et al.

Autophagy, 2023

The Role of Rab Proteins in Mitophagy: Insights into Neurodegenerative Diseases.

Shafique A et al.

International Journal of Molecular Sciences, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland.

Olszewska DA et al.

Irish Journal of Medical Science, 2022

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Jia F et al.

Genes, 2022

Parkin beyond Parkinson's Disease-A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies.

Gaweda-Walerych K et al.

Cells, 2021

Mitophagy mechanisms in neuronal physiology and pathology during ageing.

Markaki M et al.

Biophysical Reviews, 2021

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

Vizziello M et al.

Cells, 2021

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

Avazzadeh S et al.

Brain Sciences, 2021

Community-based genetic study of Parkinson's disease in Estonia.

Muldmaa M et al.

Acta Neurologica Scandinavica, 2021

Genetics of Parkinson's disease in the Polish population.

Milanowski ŁM et al.

Neurologia I Neurochirurgia Polska, 2021

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

AsCRISPR: A Web Server for Allele-Specific Single Guide RNA Design in Precision Medicine.

Zhao G et al.

The Crispr Journal, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Comprehensive assessment of PINK1 variants in Parkinson's disease.

Krohn L et al.

Neurobiology of Aging, 2020

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

Kuusimäki T et al.

Journal of Neurology, 2020

Organoid and pluripotent stem cells in Parkinson's disease modeling: an expert view on their value to drug discovery.

Marotta N et al.

Expert Opinion on Drug Discovery, 2020

Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.

Niemann N et al.

Parkinsonism & Related Disorders, 2019

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies.

Yamazaki Y et al.

Nature Reviews. Neurology, 2019

The role of monogenic genes in idiopathic Parkinson's disease.

Reed X et al.

Neurobiology of Disease, 2019

PINK1 autophosphorylation is required for ubiquitin recognition.

Rasool S et al.

Embo Reports, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Twenty years since the discovery of the parkin gene.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.

Ando M et al.

Molecular Neurodegeneration, 2017

Ubiquitin and Parkinson's disease through the looking glass of genetics.

Walden H et al.

The Biochemical Journal, 2017

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A et al.

Brain : a Journal of Neurology, 2017

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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."