Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E57K
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SNCA

NM_000345.4:p.E57K

Associated Papers

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

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

The interaction between alpha-synuclein and mitochondrial dysfunction in Parkinson's disease.

Li HY et al.

Biophysical Chemistry, 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

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Common mechanisms underlying axonal transport deficits in neurodegenerative diseases: a mini review.

Yang X et al.

Frontiers in Molecular Neuroscience, 2023

Mitochondrial Phenotypes in Parkinson's Diseases-A Focus on Human iPSC-Derived Dopaminergic Neurons.

Heger LM et al.

Cells, 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

Current and future applications of induced pluripotent stem cell-based models to study pathological proteins in neurodegenerative disorders.

de Rus Jacquet A et al.

Molecular Psychiatry, 2021

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

Baena-Montes JM et al.

Neuronal Signaling, 2021

Update on the association between alpha-synuclein and tau with mitochondrial dysfunction: Implications for Parkinson's disease.

Feng ST et al.

The European Journal of Neuroscience, 2021

Two C-terminal sequence variations determine differential neurotoxicity between human and mouse α-synuclein.

Landeck N et al.

Molecular Neurodegeneration, 2020

The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders.

Morato Torres CA 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

Poly (ADP-ribose) polymerase 1 inhibition prevents neurodegeneration and promotes α-synuclein degradation via transcription factor EB-dependent autophagy in mutant α-synucleinA53T model of Parkinson's disease.

Mao K et al.

Aging Cell, 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

Modeling Parkinson's Disease With the Alpha-Synuclein Protein.

Gómez-Benito M et al.

Frontiers in Pharmacology, 2020

Alpha-synuclein structure and Parkinson's disease - lessons and emerging principles.

Meade RM et al.

Molecular Neurodegeneration, 2019

α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies.

Prots I et al.

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

A de novo compound targeting α-synuclein improves deficits in models of Parkinson's disease.

Wrasidlo W et al.

Brain : a Journal of Neurology, 2016

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

Tsigelny IF et al.

Acs Chemical Neuroscience, 2015

The associations between Parkinson's disease and cancer: the plot thickens.

Feng DD et al.

Translational Neurodegeneration, 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 oligomers impair neuronal microtubule-kinesin interplay.

Prots I et al.

The Journal of Biological Chemistry, 2013

The many faces of α-synuclein: from structure and toxicity to therapeutic target.

Lashuel HA et al.

Nature Reviews. Neuroscience, 2013

Α-synuclein misfolding and Parkinson's disease.

Breydo L et al.

Biochimica Et Biophysica Acta, 2012

Mechanism of membrane interaction and disruption by α-synuclein.

Reynolds NP et al.

Journal of the American Chemical Society, 2011

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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."