Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E46K
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SNCA

NM_000345.4:p.E46K

Associated Papers

Degradation of alpha-synuclein/SNCA mRNA by RNautophagy.

Kabuta C et al.

Neurochemistry International, 2026

SNCA (α-synuclein) H50Q mutation reveals distinct neurodegenerative patterns and adaptive responses in Parkinson's disease Drosophila model.

Samson JS et al.

Biochemical and Biophysical Research Communications, 2026

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

Wang M et al.

Neuroscience, 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

Sterile innate immune mechanisms in neurodegenerative diseases.

Ealy A et al.

The Journal of Biological Chemistry, 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

Neuroimmune Interactions in Neurodegeneration: The Role of Microglia in Alzheimer's and Parkinson's Disease Pathogenesis.

Goyal P et al.

Brain Sciences, 2026

Genetic predispositions and nutritional strategies: a review of nutrigenomics in Parkinson's disease.

Mohamed YA et al.

Neuroscience, 2026

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

Li B et al.

Research Square, 2026

NRF2 AT THE CROSSROADS OF PARKINSON'S DISEASE AND AGING: MECHANISTIC INSIGHTS AND TRANSLATIONAL PERSPECTIVES.

Áj GY et al.

Free Radical Biology & Medicine, 2026

Heteroaggregation of Wild-Type and ALS Mutant SOD1.

Dashnaw CM et al.

Acs Chemical Neuroscience, 2026

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

Ranjan P et al.

Acs Chemical Neuroscience, 2026

Hydrophobic residues in the α-synuclein NAC domain drive seed-competent fibril formation and are targeted by peptide inhibitors.

Das V et al.

The Febs Journal, 2026

Diosgenin reduces β-sheet content in mutated α-syn aggregation: Insights from conformational dynamics at intracellular and extracellular neuronal salt concentrations.

Nandeshwar et al.

Journal of Molecular Graphics & Modelling, 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

Cholesterol modulates vesicle clustering mediated by alpha-synuclein in a nonlinear fashion.

Tyoe O et al.

Biophysics Reports, 2025

Residue-Specific Modulation of Aggregation-Associated Interactions by Spermine in Tau, α-Synuclein, and Aβ40.

Saha D et al.

Biorxiv : the Preprint Server for Biology, 2025

GM1 and OligoGM1 Drive Divergent α-Synuclein Aggregation Pathways.

Vasti C et al.

Langmuir : the Acs Journal of Surfaces and Colloids, 2025

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

Synaptic Vesicle Disruption in Parkinson's Disease: Dual Roles of α-Synuclein and Emerging Therapeutic Targets.

Treviño M et al.

Brain Sciences, 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

Familial mutations modulate α-synuclein interactions with key neuronal membrane lipids.

Ali A et al.

The Febs Journal, 2025

Human Wild-Type α-Synuclein Drives Progressive Tau Pathology in a Disease-Relevant Mouse Model of Synucleinopathy.

Senapati S et al.

Research Square, 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

Molecular Dynamics Study of α-Synuclein Domain Deletion Mutant Monomers.

Onishi N et al.

Biomolecules, 2025

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

Oxidative modification of methionine residue in α-synuclein by dopamine induces cellular vulnerability, oligomerization and secretion of α-synuclein.

Kato Y et al.

Journal of Clinical Biochemistry and Nutrition, 2025

In situ exogenous alpha-synuclein aggregates inhibit murine ventricular voltage-gated inward sodium and outward potassium currents.

Lee B et al.

Journal of Parkinson's Disease, 2025

Parkinson disease is a fatty acidopathy.

Fanning S et al.

Nature Reviews. Neurology, 2025

Brain region-specific and systemic transcriptomic alterations in a human alpha-synuclein overexpressing rat model.

Hoof V et al.

Aging, 2025

Alpha-synuclein inclusions reduced by PIKfyve inhibition in Parkinson disease cell models.

Lucas-Del-Pozo S et al.

Neurobiology of Disease, 2025

Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.

Xu KY et al.

Npj Parkinson's Disease, 2025

Carbamylation Promotes Sequence-Specific Amyloidogenesis in the α-Synuclein KTKEGV Repeat Motifs.

Gadhavi J et al.

Acs Chemical Neuroscience, 2025

The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseases.

Feringa FM et al.

Nature Metabolism, 2025

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Genetic and structural aspects of amyloid diseases.

Rosenberg GM et al.

Science Translational Medicine, 2025

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

Brücke C et al.

Molecular Neurodegeneration, 2025

Molecular Dynamics Simulations Reveal Conformational Determinants of the Dynamic Association between α-Synuclein and Membranes.

Huang J et al.

Journal of Chemical Information and Modeling, 2025

Modeling Synucleinopathy Using hESC-Derived Cerebral Organoids.

Kim SJ et al.

Cells, 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

Alternative pre-mRNA Splicing and Gene Expression Patterns in Midbrain Lineage Cells Carrying Familial Parkinson's Disease Mutations.

Lee YJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Hypoxia and TTR dysregulation in astrocytes from Parkinson's disease with a specific mitochondrial haplogroup: A single-cell analysis.

Wang J et al.

Neural Regeneration Research, 2025

Parkinson's disease: genetics and neuroinflammatory insights.

Chandel I et al.

Inflammopharmacology, 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

Interaction Between α-Synuclein and DJ-1 in Parkinson's Disease.

Sobhifar P et al.

Brain Sciences, 2025

α-Synuclein Drives SNARE-Dependent Tubular Remodeling of Vesicles.

Li Q et al.

Journal of the American Chemical Society, 2025

Alpha-synuclein fibril structures cluster into distinct classes.

Milchberg MH et al.

Biophysical Journal, 2025

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

Serdiuk T et al.

Nature Communications, 2025

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