Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E35K
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SNCA

NM_000345.4:p.E35K

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

Cholesterol modulates vesicle clustering mediated by alpha-synuclein in a nonlinear fashion.

Tyoe O et al.

Biophysics Reports, 2025

Interaction Between α-Synuclein and DJ-1 in Parkinson's Disease.

Sobhifar P et al.

Brain Sciences, 2025

Stearoyl-CoA desaturase inhibition normalizes brain lipid saturation, α-synuclein homeostasis, and motor function in mutant Gba1-Parkinson mice.

Nuber S et al.

Jci Insight, 2025

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

In Silico Evaluation of the Potential Association of the Pathogenic Mutations of Alpha Synuclein Protein with Induction of Synucleinopathies.

Elnageeb ME et al.

Diseases (basel, Switzerland), 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

The Prion-Like Spreading of Alpha-Synuclein in Parkinson's Disease: Update on Models and Hypotheses.

Jan A et al.

International Journal of Molecular Sciences, 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

α-synuclein pathogenesis in hiPSC models of Parkinson's disease.

Baena-Montes JM et al.

Neuronal Signaling, 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

Simple and Complex Sugars in Parkinson's Disease: a Bittersweet Taste.

Zulueta A et al.

Molecular Neurobiology, 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

Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

Coskuner-Weber O et al.

International Journal of Molecular Sciences, 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

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

Hernandez DG et al.

Journal of Neurochemistry, 2016

Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.

Tsigelny IF et al.

Acs Chemical Neuroscience, 2015

Systematic comparison of the effects of alpha-synuclein mutations on its oligomerization and aggregation.

Lázaro DF et al.

Plos Genetics, 2014

Accumulation of oligomer-prone α-synuclein exacerbates synaptic and neuronal degeneration in vivo.

Rockenstein E et al.

Brain : a Journal of Neurology, 2014

Α-synuclein misfolding and Parkinson's disease.

Breydo L et al.

Biochimica Et Biophysica Acta, 2012

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

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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."