Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.D18V
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PRKN

NM_004562.3:p.D18V

Associated Papers

The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.

Vico IAD et al.

Movement Disorders Clinical Practice, 2026

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 2025

The Aggregation Continuum of α-Synuclein and Its Relevance to Brain Aging.

Rana A et al.

Acs Chemical Neuroscience, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Synaptic sabotage: How Tau and α-Synuclein undermine synaptic health.

Uytterhoeven V et al.

The Journal of Cell Biology, 2025

The α-Synuclein Seeding Amplification Assay for Parkinson's Disease.

Yi LX et al.

International Journal of Molecular Sciences, 2025

Mass spectrometry-based proteomics for biomarker discovery in the Drosophila model of Parkinson's disease.

Khan MR et al.

Neuroprotection (chichester, England), 2024

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Impaired Sonic Hedgehog Responsiveness of Induced Pluripotent Stem Cell-Derived Floor Plate Cells Carrying the LRRK2-I1371V Mutation Contributes to the Ontogenic Origin of Lower Dopaminergic Neuron Yield.

Potdar C et al.

Stem Cells and Development, 2024

Astroglial activation: Current concepts and future directions.

Edison P

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Pharmacological PINK1 activation ameliorates Pathology in Parkinson's Disease models.

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Parkin, an E3 Ubiquitin Ligase, Plays an Essential Role in Mitochondrial Quality Control in Parkinson's Disease.

Wang XL et al.

Cellular and Molecular Neurobiology, 2021

Genes Implicated in Familial Parkinson's Disease Provide a Dual Picture of Nigral Dopaminergic Neurodegeneration with Mitochondria Taking Center Stage.

Franco R et al.

International Journal of Molecular Sciences, 2021

Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.

Madsen DA et al.

Cells, 2021

Treating Parkinson's Disease with Antibodies: Previous Studies and Future Directions.

Castonguay AM et al.

Journal of Parkinson's Disease, 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Abe T et al.

Frontiers in Neurology, 2021

Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models.

Taoufik E et al.

Open Biology, 2018

Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention.

Briston T et al.

Biochemical Society Transactions, 2018

Exacerbation of sensorimotor dysfunction in mice deficient in Atp13a2 and overexpressing human wildtype alpha-synuclein.

Dirr ER et al.

Behavioural Brain Research, 2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

α-synuclein Induces Mitochondrial Dysfunction through Spectrin and the Actin Cytoskeleton.

Ordonez DG et al.

Neuron, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Diversity of astroglial responses across human neurodegenerative disorders and brain aging.

Ferrer I

Brain Pathology (zurich, Switzerland), 2017

Alpha-synuclein at the intracellular and the extracellular side: functional and dysfunctional implications.

Ottolini D et al.

Biological Chemistry, 2017

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Hernandez DG et al.

Journal of Neurochemistry, 2016

Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.

Van Rompuy AS et al.

Molecular Neurodegeneration, 2015

Long-term overexpression of human wild-type and T240R mutant Parkin in rat substantia nigra induces progressive dopaminergic neurodegeneration.

Van Rompuy AS et al.

Journal of Neuropathology and Experimental Neurology, 2014

Parkin plays a role in sporadic Parkinson's disease.

Dawson TM et al.

Neuro-degenerative Diseases, 2014

Age-dependent effects of A53T alpha-synuclein on behavior and dopaminergic function.

Oaks AW et al.

Plos One, 2013

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A et al.

Plos One, 2013

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

Ubiquitination increases parkin activity to promote autophagic α-synuclein clearance.

Lonskaya I et al.

Plos One, 2013

PARK2 gene mutations in early onset Parkinson's disease patients of South India.

Padmaja MV et al.

Neuroscience Letters, 2012

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Genetically engineered mouse models of Parkinson's disease.

Crabtree DM et al.

Brain Research Bulletin, 2012

Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders.

Kumar P et al.

Journal of Neurochemistry, 2012

Macroautophagy in sporadic and the genetic form of Parkinson's disease with the A53T α-synuclein mutation.

Huang Y et al.

Translational Neurodegeneration, 2012

Molecular aspects of dopaminergic neurodegeneration: gene-environment interaction in parkin dysfunction.

Ali SF et al.

International Journal of Environmental Research and Public Health, 2011

Parkinson's disease mouse models in translational research.

Antony PM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

Genetic LRRK2 models of Parkinson's disease: Dissecting the pathogenic pathway and exploring clinical applications.

Yue Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

Ubiquitinylation of α-synuclein by carboxyl terminus Hsp70-interacting protein (CHIP) is regulated by Bcl-2-associated athanogene 5 (BAG5).

Kalia LV et al.

Plos One, 2011

Defects in very long chain fatty acid synthesis enhance alpha-synuclein toxicity in a yeast model of Parkinson's disease.

Lee YJ et al.

Plos One, 2011

On the road to leucine-rich repeat kinase 2 signalling: evidence from cellular and in vivo studies.

Daniëls V et al.

Neuro-signals, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

Mouse models of cognitive deficits due to alpha-synuclein pathology.

Magen I et al.

Journal of Parkinson's Disease, 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

Mice expressing mutant parkin exhibit hallmark features of Parkinson's disease.

Hart MP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Physiological and pathological role of alpha-synuclein in Parkinson's disease through iron mediated oxidative stress; the role of a putative iron-responsive element.

Olivares D et al.

International Journal of Molecular Sciences, 2009

Genomics of complex disorders II.

Unknown Author

Genomic Medicine, 2008

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