Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A53V
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SNCA

NM_000345.4:p.A53V

Associated Papers

Unfolding Sequence-Specific Enigma in Monomeric α-Synuclein: Implications for Parkinson's Disease.

Ranjan P et al.

Acs Chemical Neuroscience, 2026

A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.

Al-Azzani M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Brücke C et al.

Molecular Neurodegeneration, 2025

Isobavachalcone inhibits α-synuclein fibrillogenesis and its Parkinson's disease variants, disassembles the mature fibrils and alleviates cellular toxicity.

Xie F et al.

International Journal of Biological Macromolecules, 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.

Koros C et al.

Biomedicines, 2025

Submolecular Resolution Imaging of Amyloid Aggregation: An STM Approach to Decipher Missense Mutation Effects in α-Synuclein.

Deng Z et al.

Nano Letters, 2025

A personalised and comprehensive approach is required to suppress or replenish SNCA for Parkinson's disease.

Li D et al.

Npj Parkinson's Disease, 2025

A novel alpha-synuclein K58N missense variant in a patient with Parkinson's disease.

Al-Azzani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A study of alpha-synuclein and poly(N-isopropylacrylamide) complex formation through detailed atomistic simulations.

Ektirici S et al.

Soft Matter, 2025

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Brücke C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

High-resolution Cryo-EM Structure Determination of a-Synuclein-A Prototypical Amyloid Fibril.

Sanchez JC et al.

Bio-protocol, 2025

Erratum to: Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.

Nishioka K

Neurobiology of Aging, 2025

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

Alefanti I et al.

European Journal of Neurology, 2025

Glycine-to-aspartic acid mutation at codon 51 in Snca disrupts the synaptic localisation of α-synuclein and enhances its propensity for synucleinopathy.

West S et al.

Brain Communications, 2025

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

Reis PM et al.

Journal of Parkinson's Disease, 2024

A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Eissazade N et al.

Parkinsonism & Related Disorders, 2024

Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Uribe Roca MC

Parkinsonism & Related Disorders, 2024

High-Resolution Cryo-EM Structure Determination of α-synuclein - A Prototypical Amyloid Fibril.

Sanchez JC et al.

Biorxiv : the Preprint Server for Biology, 2024

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.

Dos Santos JCC et al.

Molecular Neurobiology, 2024

RXR nuclear receptor signaling modulates lipid metabolism and triggers lysosomal clearance of alpha-synuclein in neuronal models of synucleinopathy.

Tripathi A et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Current insights and assumptions on α-synuclein in Lewy body disease.

Leak RK et al.

Acta Neuropathologica, 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

Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson's patients.

de Boni L et al.

Embo Molecular Medicine, 2024

The First East Asian Patient With Parkinson's Disease Caused by the A53E SNCA Mutation With Early Progression to Dementia.

Yoon YJ et al.

Journal of Movement Disorders, 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

Emerging Trends in Cryo-EM-based Structural Studies of Neuropathological Amyloids.

Mishra S

Journal of Molecular Biology, 2023

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

Li HY et al.

Biophysical Chemistry, 2023

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Interaction of Proteins Involved in Neuronal Proteinopathies.

Kulichikhin KY et al.

Life (basel, Switzerland), 2023

Parkinson's disease-linked V15A mutation facilitates α-synuclein aggregation by reducing membrane affinity.

Buratti FA et al.

Protein Science : a Publication of the Protein Society, 2023

The Hidden Cell-to-Cell Trail of α-Synuclein Aggregates.

Neupane S et al.

Journal of Molecular Biology, 2023

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

Themistokleous C et al.

Journal of Molecular Biology, 2023

Chemical Synthesis of Alpha-Synuclein Proteins via Solid-Phase Peptide Synthesis and Native Chemical Ligation.

Gatzemeier LM et al.

Chemistry (weinheim an Der Bergstrasse, Germany), 2023

Genetic study of early-onset Parkinson's disease in the Malaysian population.

Tay YW et al.

Parkinsonism & Related Disorders, 2023

Functional and Pathological Effects of α-Synuclein on Synaptic SNARE Complexes.

Gao V et al.

Journal of Molecular Biology, 2023

Conformational dynamics of A30G α-synuclein that causes familial Parkinson disease.

Das D et al.

Journal of Biomolecular Structure & Dynamics, 2023

Pain in monogenic Parkinson's disease: a comprehensive review.

Alizadeh P et al.

Frontiers in Neurology, 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 mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 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

Library-Derived Peptide Aggregation Modulators of Parkinson's Disease Early-Onset α-Synuclein Variants.

Watt KJC et al.

Acs Chemical Neuroscience, 2022

Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43.

Tarutani A et al.

Acta Neuropathologica, 2022

A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.

Kumar ST et al.

Science Advances, 2022

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

Fan HF et al.

Acs Chemical Neuroscience, 2022

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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."