Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E61K
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SNCA

NM_000345.4:p.E61K

Associated Papers

Sterile innate immune mechanisms in neurodegenerative diseases.

Ealy A et al.

The Journal of Biological Chemistry, 2026

Quantifying the Acute Toxicity of Alpha-Synuclein Membrane-Accumulation in a Cell-Based Assay.

Li B et al.

Research Square, 2026

Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.

Eubanks E et al.

Cell Reports, 2025

Single extracellular vesicle detection assay identifies membrane-associated α-synuclein as an early-stage biomarker in Parkinson's disease.

Yan S et al.

Cell Reports. Medicine, 2025

Stearoyl-CoA desaturase-1: a potential therapeutic target for neurological disorders.

Loix M et al.

Molecular Neurodegeneration, 2024

Altered Protein Palmitoylation as Disease Mechanism in Neurodegenerative Disorders.

Wlodarczyk J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions.

Lam I et al.

Neuron, 2024

Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.

Eubanks E et al.

Biorxiv : the Preprint Server for Biology, 2024

Generation of G51D and 3D mice reveals decreased α-synuclein tetramer-monomer ratios promote Parkinson's disease phenotypes.

Nuber S et al.

Npj Parkinson's Disease, 2024

Adding hydrophobicity or positive charges to the cytosolic half of the α-synuclein 3-11 helix increases membrane association and S129 phosphorylation.

Shimanaka K et al.

Febs Letters, 2024

Dynamic reversibility of α-synuclein serine-129 phosphorylation is impaired in synucleinopathy models.

Ramalingam N et al.

Embo Reports, 2023

Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents.

He Y et al.

Nature Communications, 2023

Monitoring α-synuclein ubiquitination dynamics reveals key endosomal effectors mediating its trafficking and degradation.

Zenko D et al.

Science Advances, 2023

The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.

Hallacli E et al.

Cell, 2022

Pathogenic Mechanisms of Cytosolic and Membrane-Enriched α-Synuclein Converge on Fatty Acid Homeostasis.

Tripathi A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022

Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Kim TE et al.

Human Molecular Genetics, 2021

Altered conformation of α-synuclein drives dysfunction of synaptic vesicles in a synaptosomal model of Parkinson's disease.

Fonseca-Ornelas L et al.

Cell Reports, 2021

Crowded organelles, lipid accumulation, and abnormal membrane tubulation in cellular models of enhanced α-synuclein membrane interaction.

Ericsson M et al.

Brain Research, 2021

Upregulation of Cellular Palmitoylation Mitigates α-Synuclein Accumulation and Neurotoxicity.

Ho GPH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

A Stearoyl-Coenzyme A Desaturase Inhibitor Prevents Multiple Parkinson Disease Phenotypes in α-Synuclein Mice.

Nuber S et al.

Annals of Neurology, 2021

Rapid Alpha-Synuclein Toxicity in a Neural Cell Model and Its Rescue by a Stearoyl-CoA Desaturase Inhibitor.

Terry-Kantor E et al.

International Journal of Molecular Sciences, 2020

The Role of Lipids in the Initiation of α-Synuclein Misfolding.

Kiechle M et al.

Frontiers in Cell and Developmental Biology, 2020

Cell models of lipid-rich α-synuclein aggregation validate known modifiers of α-synuclein biology and identify stearoyl-CoA desaturase.

Imberdis T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

E46K-like α-synuclein mutants increase lipid interactions and disrupt membrane selectivity.

Rovere M et al.

The Journal of Biological Chemistry, 2019

Abrogating Native α-Synuclein Tetramers in Mice Causes a L-DOPA-Responsive Motor Syndrome Closely Resembling Parkinson's Disease.

Nuber S et al.

Neuron, 2018

Cryo-EM structure of alpha-synuclein fibrils.

Guerrero-Ferreira R et al.

Elife, 2018

Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.

Dettmer U et al.

Human Molecular Genetics, 2017

The effect of amino acid substitution in the imperfect repeat sequences of alpha-synuclein on fibrillation.

Harada R et al.

Biochimica Et Biophysica Acta, 2009

Sequence determinants regulating fibrillation of human alpha-synuclein.

Koo HJ et al.

Biochemical and Biophysical Research Communications, 2008

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