Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A30G
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SNCA

NM_000345.4:p.A30G

Associated Papers

In vitro-prepared A30P alpha-synuclein fibrils adopt the conserved and disease-relevant Greek key fold.

Milchberg MH et al.

Biorxiv : the Preprint Server for Biology, 2026

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

A30P and A30G Mutations in α-Synuclein Promote Metastable Long-Lived Aggregates with Distinct Structural Responses to EGCG.

Devi S et al.

Biochemistry, 2025

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

Brücke C et al.

Molecular Neurodegeneration, 2025

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

Koros C et al.

Biomedicines, 2025

Effect of hydrogen sulfide on alpha-synuclein aggregation and cell viability.

Ostrakhovitch EA et al.

Scientific Reports, 2025

Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.

Pilotto A et al.

International Journal of Molecular Sciences, 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 novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Brücke C et al.

Medrxiv : the Preprint Server for Health Sciences, 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

α-Synuclein in Parkinson's Disease: 12 Years Later.

Vekrellis K et al.

Cold Spring Harbor Perspectives in Medicine, 2024

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

Reis PM et al.

Journal of Parkinson's Disease, 2024

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

Uribe Roca MC

Parkinsonism & Related Disorders, 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

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

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

Kishore A et al.

Npj Parkinson's Disease, 2024

In silico analysis of alpha-synuclein protein variants and posttranslational modifications related to Parkinson's disease.

da Silva ANR et al.

Journal of Cellular Biochemistry, 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

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

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 Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 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

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

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

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

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Jia F et al.

Genes, 2022

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

Holec SAM et al.

Acta Neuropathologica, 2022

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Nishioka K et al.

Frontiers in Neurology, 2022

α-Synuclein (SNCA) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism.

Sokratous M et al.

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

Reply to: "α-Synuclein (SNCA) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism".

Liu H et al.

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

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Fevga C et al.

Parkinsonism & Related Disorders, 2021

A Novel SNCA A30G Mutation Causes Familial Parkinson's Disease.

Liu H et al.

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

The Cryo-EM Effect: Structural Biology of Neurodegenerative Disease Aggregates.

Creekmore BC et al.

Journal of Neuropathology and Experimental Neurology, 2021

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

Guo Y et al.

Frontiers in Aging Neuroscience, 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."