Varaico: Literature-Extracted Genetic Variants

Gene:SNCG
Variant:p.A30P
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SNCG

NM_003087.3:p.A30P

Associated Papers

In vivo Proximity & Spatial Proteomics with CRISPR Screening Identify STXBP1 as a Protective Modifier of α-synuclein Toxicity in Dopamine Neurons.

Shonai D et al.

Biorxiv : the Preprint Server for Biology, 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

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

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

Serdiuk T et al.

Nature Communications, 2025

Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.

Lv G et al.

Nature Communications, 2025

Interplay of α-Synuclein Oligomers and Endoplasmic Reticulum Stress in Parkinson'S Disease: Insights into Cellular Dysfunctions.

Zeng H et al.

Inflammation, 2025

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

Abdelaziz AM

International Immunopharmacology, 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

Autophagy-NAD+ axis: emerging insights into neuronal homeostasis and neurodegenerative diseases.

Kocak G et al.

Frontiers in Molecular Biosciences, 2025

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

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 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

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

Hassanzadeh K et al.

Pharmacological Reviews, 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

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

Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.

Sharma K et al.

Molecular Biology Reports, 2024

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

Kishore A et al.

Npj Parkinson's Disease, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

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

Rose EP et al.

Biorxiv : the Preprint Server for Biology, 2024

Characterization of Molecular Tweezer Binding on α-Synuclein with Native Top-Down Mass Spectrometry and Ion Mobility-Mass Spectrometry Reveals a Mechanism for Aggregation Inhibition.

Lantz C et al.

Journal of the American Society for Mass Spectrometry, 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

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

Mitochondrial dysfunction: A notable contributor to the progression of Alzheimer's and Parkinson's disease.

Olagunju AS et al.

Heliyon, 2023

Aggregation of Disordered Proteins Associated with Neurodegeneration.

Tsoi PS et al.

International Journal of Molecular Sciences, 2023

The Role of Membrane Affinity and Binding Modes in Alpha-Synuclein Regulation of Vesicle Release and Trafficking.

Das T et al.

Biomolecules, 2022

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

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

Cheng F et al.

Brain : a Journal of Neurology, 2022

Alpha-synuclein overexpression induces epigenomic dysregulation of glutamate signaling and locomotor pathways.

Schaffner SL et al.

Human Molecular Genetics, 2022

The Role of Rab Proteins in Parkinson's Disease Synaptopathy.

Bellucci A et al.

Biomedicines, 2022

Genotypic-Phenotypic Analysis, Metabolic Profiling and Clinical Correlations in Parkinson's Disease Patients from Tamil Nadu Population, India.

Venkatesan D et al.

Journal of Molecular Neuroscience : Mn, 2022

p21-activated kinase 4 controls the aggregation of α-synuclein by reducing the monomeric and aggregated forms of α-synuclein: involvement of the E3 ubiquitin ligase NEDD4-1.

Won SY et al.

Cell Death & Disease, 2022

Wide-Line NMR Melting Diagrams, Their Thermodynamic Interpretation, and Secondary Structure Predictions for A30P and E46K α-Synuclein.

Bokor M et al.

Acs Omega, 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

Animal models of brain-first and body-first Parkinson's disease.

Van Den Berge N et al.

Neurobiology of Disease, 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

miRNA and antisense oligonucleotide-based α-synuclein targeting as disease-modifying therapeutics in Parkinson's disease.

Suvarna V et al.

Frontiers in Pharmacology, 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

Examining the Toxicity of α-Synuclein in Neurodegenerative Disorders.

Shan FY et al.

Life (basel, Switzerland), 2021

Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Wang C et al.

Translational Neurodegeneration, 2021

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 2021

Oxidative stress factors in Parkinson's disease.

Dorszewska J et al.

Neural Regeneration Research, 2021

Low chorionic villous succinate accumulation associates with recurrent spontaneous abortion risk.

Wang XH et al.

Nature Communications, 2021

34103526 (PubMed )
Supplement: 41467_2021_23827_MOESM3_ESM.pdf

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

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

Aggarwal L et al.

Journal of Chemical Information and Modeling, 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."