Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A53E
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SNCA

NM_000345.4:p.A53E

Associated Papers

Alpha-synuclein overexpression triggers divergent cellular responses and post-translational modifications in SH-SY5Y and ReNcell VM models.

Momand MUD et al.

Cellular and Molecular Life Sciences : Cmls, 2026

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

Anti-TLR2 immunotherapy modulates neuron-to-oligodendrocyte propagation of α-synuclein in mouse and human models.

Bae EJ et al.

Nature Communications, 2026

Quantifying the Acute Toxicity of Alpha-Synuclein Membrane-Accumulation in a Cell-Based Assay.

Li B et al.

Research Square, 2026

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

Ranjan P et al.

Acs Chemical Neuroscience, 2026

Hidden faces of alpha-synuclein: Cryo-EM revelation of fibril polymorphs driven by disease, mutations, and PTMs.

Pirhaghi M et al.

Bba Advances, 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

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

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

The Aggregation Continuum of α-Synuclein and Its Relevance to Brain Aging.

Rana A et al.

Acs Chemical Neuroscience, 2025

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

Brücke C et al.

Molecular Neurodegeneration, 2025

Conformational Ensemble Dynamics of Intrinsically Disordered Full-Length α- and β-Synuclein Monomers.

Lv Z et al.

Journal of Chemical Information and Modeling, 2025

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 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

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha-Synuclein-Gene-Associated Parkinson's Disease.

Braun A et al.

Movement Disorders Clinical Practice, 2025

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

Koros C et al.

Biomedicines, 2025

Genetic Sketch of Parkinson's Disease in India.

Bhowmick SS et al.

Annals of Indian Academy of Neurology, 2025

USP10 inhibits the degradation of α-synuclein, a pathogenic factor associated with Parkinson's disease, by inhibiting chaperone-mediated autophagy.

Anisimov S et al.

The Journal of Biological Chemistry, 2025

Alpha-synuclein mutations mislocalize cytoplasmic p300 compromising autophagy, which is rescued by ACLY inhibition.

Son SM et al.

Neuron, 2025

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

Abdelaziz AM

International Immunopharmacology, 2025

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

Outlook of SNCA (α-synuclein) transgenic fly models in delineating the sequel of mitochondrial dysfunction in Parkinson's disease.

Samson JS et al.

Brain Research, 2025

Identical Seeding Characteristics and Cryo-EM Filament Structures in FTLD-Synuclein and Typical Multiple System Atrophy.

Cullinane PW et al.

Neuropathology and Applied Neurobiology, 2025

Alpha-Synuclein Phosphomimetic Y39E and S129D Knock-In Mice Show Cytosolic Alpha-Synuclein Localization without Developing Neurodegeneration or Motor Deficits.

Kim Y et al.

Eneuro, 2025

Alpha-Synuclein Pathophysiology in Neurodegenerative Disorders: A Review Focusing on Molecular Mechanisms and Treatment Advances in Parkinson's Disease.

Yaribash S et al.

Cellular and Molecular Neurobiology, 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

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

The α-Synuclein Seeding Amplification Assay for Parkinson's Disease.

Yi LX et al.

International Journal of Molecular Sciences, 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

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Li XY et al.

European Journal of Neurology, 2024

Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

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

Vekrellis K et al.

Cold Spring Harbor Perspectives in Medicine, 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

Analysis and comparison of post-translational modifications of α-synuclein filaments in multiple system atrophy and dementia with Lewy bodies.

Kametani F et al.

Scientific Reports, 2024

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

Uribe Roca MC

Parkinsonism & Related Disorders, 2024

Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice.

Kim Y et al.

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

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

Exploring Intrinsic Disorder in Human Synucleins and Associated Proteins.

Venati SR 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.

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

1–50 of 297 papers
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