Varaico: Literature-Extracted Genetic Variants

Gene:SNCG
Variant:p.E46K
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SNCG

NM_003087.3:p.E46K

Associated Papers

Multifaceted performances of α-synuclein in health and neurological diseases.

Wang M et al.

Neuroscience, 2026

Differential roles of proteasome and autophagy in α-synuclein and E46K oligomer clearance: insight into the modulatory effects of the dopamine metabolite DOPAC.

Leri M et al.

International Journal of Biological Macromolecules, 2026

Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.

Barbosa PM et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2025

Rising Stars: Molecular Mechanisms and Chemical Interventions of α-Synuclein Amyloid Aggregation in Parkinson's Disease.

Zhang S et al.

Journal of Molecular Biology, 2025

Genetic and structural aspects of amyloid diseases.

Rosenberg GM et al.

Science Translational Medicine, 2025

Alpha-synuclein interacts with regulators of ATP homeostasis in mitochondria.

Serdiuk T et al.

Nature Communications, 2025

Alpha-Synuclein drives NURR1 and NLRP3 Inflammasome dysregulation in Parkinson's disease: From pathogenesis to potential therapeutic strategies.

Abdelaziz AM

International Immunopharmacology, 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-point mutations in disordered proteins: Linking sequence, ensemble, and function.

Flores E et al.

Current Opinion in Structural Biology, 2025

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

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Mouse α-synuclein fibrils are structurally and functionally distinct from human fibrils associated with Lewy body diseases.

Sokratian A et al.

Science Advances, 2024

39485845 (PubMed )
Supplement: sciadv.adq3539_sm.pdf

Structurally targeted mutagenesis identifies key residues supporting α-synuclein misfolding in multiple system atrophy.

Reis PM et al.

Journal of Parkinson's Disease, 2024

Posttranslational Modifications of α-Synuclein, Their Therapeutic Potential, and Crosstalk in Health and Neurodegenerative Diseases.

Hassanzadeh K et al.

Pharmacological Reviews, 2024

Alpha-synuclein modulates the repair of genomic DNA double-strand breaks in a DNA-PKcs-regulated manner.

Rose EP et al.

Neurobiology of Disease, 2024

Correction to Supporting Information for Woerman et al., Familial Parkinson's point mutation abolishes multiple system atrophy prion replication.

Unknown Author

Proceedings of the National Academy of Sciences of the United States of America, 2024

39288185 (PubMed )
Supplement: pnas.2417229121.sapp.pdf

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

Structurally targeted mutagenesis identifies key residues supporting α -synuclein misfolding in multiple system atrophy.

Reis PM et al.

Biorxiv : the Preprint Server for Biology, 2024

Parkinson's disease-associated mutations in α-synuclein alters its lipid-bound state.

Maltseva S et al.

Biophysical Journal, 2024

Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.

Kishore A et al.

Npj Parkinson's Disease, 2024

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

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

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

VPS35 and α-Synuclein fail to interact to modulate neurodegeneration in rodent models of Parkinson's disease.

Chen X et al.

Molecular Neurodegeneration, 2023

Inhibition of Protein Aggregation and Endoplasmic Reticulum Stress as a Targeted Therapy for α-Synucleinopathy.

Siwecka N et al.

Pharmaceutics, 2023

Role of Autophagy Pathway in Parkinson's Disease and Related Genetic Neurological Disorders.

Themistokleous C et al.

Journal of Molecular Biology, 2023

Interfacial properties of α-synuclein's Parkinsonian variants.

Mohapatra A et al.

Biophysical Chemistry, 2023

Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases.

Sampognaro PJ et al.

Molecular Neurodegeneration, 2023

Aggregation of Disordered Proteins Associated with Neurodegeneration.

Tsoi PS et al.

International Journal of Molecular Sciences, 2023

Anionic lipid vesicles have differential effects on the aggregation of early onset-associated α-synuclein missense mutants.

Watt KJC et al.

The Journal of Biological Chemistry, 2022

The E46K mutation modulates α-synuclein prion replication in transgenic mice.

Holec SAM et al.

Plos Pathogens, 2022

α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property.

Daida K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35894540 (PubMed )
Supplement: MDS-37-2075-s001.pdf

Quaternary structure of patient-homogenate amplified α-synuclein fibrils modulates seeding of endogenous α-synuclein.

Frieg B et al.

Communications Biology, 2022

36180728 (PubMed )
Supplement: 42003_2022_3948_MOESM1_ESM.pdf

3,4-Dihydroxyphenylethanol and 3,4-dihydroxyphenylacetic acid affect the aggregation process of E46K variant of α-synuclein at different extent: Insights into the interplay between protein dynamics and catechol effect.

Fongaro B et al.

Protein Science : a Publication of the Protein Society, 2022

Mechanisms of enhanced aggregation and fibril formation of Parkinson's disease-related variants of α-synuclein.

Ohgita T et al.

Scientific Reports, 2022

Change in the Oligomeric State of α-Synuclein Variants in Living Cells.

Fan HF et al.

Acs Chemical Neuroscience, 2022

Consequences of variability in α-synuclein fibril structure on strain biology.

Holec SAM et al.

Acta Neuropathologica, 2022

Regulation of Neurodegeneration-associated Protein Fragments by the N-degron Pathways.

Eldeeb MA et al.

Neurotoxicity Research, 2022

An Update on the Critical Role of α-Synuclein in Parkinson's Disease and Other Synucleinopathies: from Tissue to Cellular and Molecular Levels.

Serratos IN et al.

Molecular Neurobiology, 2022

Parkinson's Disease Modification Through Abl Kinase Inhibition: An Opportunity.

Werner MH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Wild-Type α-Synuclein and Variants Occur in Different Disordered Dimers and Pre-Fibrillar Conformations in Early Stage of Aggregation.

Guzzo A et al.

Frontiers in Molecular Biosciences, 2022

Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.

Padilla-Godínez FJ et al.

International Journal of Molecular Sciences, 2021

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 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

Oxidative stress factors in Parkinson's disease.

Dorszewska J et al.

Neural Regeneration Research, 2021

α-Synuclein mutation impairs processing of endomembrane compartments and promotes exocytosis and seeding of α-synuclein pathology.

Stykel MG et al.

Cell Reports, 2021

Hydration Thermodynamics of Familial Parkinson's Disease-Linked Mutants of α-Synuclein.

Aggarwal L et al.

Journal of Chemical Information and Modeling, 2021

Effects of α-Synuclein-Associated Post-Translational Modifications in Parkinson's Disease.

He S et al.

Acs Chemical Neuroscience, 2021

α-Synuclein E46K Mutation and Involvement of Oxidative Stress in a Drosophila Model of Parkinson's Disease.

Reiszadeh Jahromi S et al.

Parkinson's Disease, 2021

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Guo Y et al.

Frontiers in Aging Neuroscience, 2021

34456707 (PubMed )
Supplement: Data_Sheet_1.pdf

Missense Mutations Modify the Conformational Ensemble of the α-Synuclein Monomer Which Exhibits a Two-Phase Characteristic.

Guzzo A et al.

Frontiers in Molecular Biosciences, 2021

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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."