Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.E18V
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UBB

NM_018955.4:p.E18V

Associated Papers

Gene therapy targeting synaptopathy linked with Alzheimer's and Parkinson's disease.

Panda SP et al.

Neuroscience, 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

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

Uytterhoeven V et al.

The Journal of Cell Biology, 2025

The Role of Astrocytes and Alpha-Synuclein in Parkinson's Disease: A Review.

Brash-Arias D et al.

Neurosci, 2024

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

Interaction Between the Glymphatic System and α-Synuclein in Parkinson's Disease.

Zhang Y et al.

Molecular Neurobiology, 2023

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

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

miRNA and antisense oligonucleotide-based α-synuclein targeting as disease-modifying therapeutics in Parkinson's disease.

Suvarna V et al.

Frontiers in Pharmacology, 2022

Deficient immunoproteasome assembly drives gain of α-synuclein pathology in Parkinson's disease.

Bi M et al.

Redox Biology, 2021

34662812 (PubMed )
Supplement: mmc1.doc

Cytosolic aggregation of mitochondrial proteins disrupts cellular homeostasis by stimulating the aggregation of other proteins.

Nowicka U et al.

Elife, 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

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

Dynamin-related protein 1: A protein critical for mitochondrial fission, mitophagy, and neuronal death in Parkinson's disease.

Feng ST et al.

Pharmacological Research, 2020

Pathogenic Mutations Differentially Regulate Cell-to-Cell Transmission of α-Synuclein.

Guan Y et al.

Frontiers in Cellular Neuroscience, 2020

Replication of multiple system atrophy prions in primary astrocyte cultures from transgenic mice expressing human α-synuclein.

Krejciova Z et al.

Acta Neuropathologica Communications, 2019

What is the Evidence That Parkinson's Disease is a Prion Disorder, Which Originates in the Gut?

Kujawska M et al.

International Journal of Molecular Sciences, 2018

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

Briston T et al.

Biochemical Society Transactions, 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

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

Ottolini D et al.

Biological Chemistry, 2017

Glia and alpha-synuclein in neurodegeneration: A complex interaction.

Brück D et al.

Neurobiology of Disease, 2016

Single-molecule FRET studies on alpha-synuclein oligomerization of Parkinson's disease genetically related mutants.

Tosatto L et al.

Scientific Reports, 2015

26582456 (PubMed )
Supplement: srep16696-s1.pdf

Link between the SNCA gene and parkinsonism.

Xu W et al.

Neurobiology of Aging, 2015

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

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

Wales P et al.

Journal of Parkinson's Disease, 2013

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

Huang Y et al.

Translational Neurodegeneration, 2012

New animal models of Parkinson's disease.

Dehay B et al.

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

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

Magen I et al.

Journal of Parkinson's Disease, 2011

Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's-disease-related mutant alpha-synuclein.

Lin X et al.

Neuron, 2009

Novel suppressors of alpha-synuclein toxicity identified using yeast.

Liang J et al.

Human Molecular Genetics, 2008

Increased dopaminergic neuron sensitivity to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in transgenic mice expressing mutant A53T alpha-synuclein.

Yu WH et al.

Neurochemical Research, 2008

Alpha-synuclein overexpression increases cytosolic catecholamine concentration.

Mosharov EV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

PA700, the regulatory complex of the 26S proteasome, interferes with alpha-synuclein assembly.

Ghee M et al.

The Febs Journal, 2005

Alpha-synuclein targets the plasma membrane via the secretory pathway and induces toxicity in yeast.

Dixon C et al.

Genetics, 2005

Pathogenic effects of alpha-synuclein aggregation.

Lundvig D et al.

Brain Research. Molecular Brain Research, 2005

Part II: alpha-synuclein and its molecular pathophysiological role in neurodegenerative disease.

Dev KK et al.

Neuropharmacology, 2003

Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice.

Gomez-Isla T et al.

Neurobiology of Aging, 0

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