Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A30P
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SNCA

NM_000345.4:p.A30P

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

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

Lipid Acyl Chain-Driven α-Synuclein Fibril Polymorphisms and Neuronal Pathologies.

Baek Y et al.

Biorxiv : the Preprint Server for Biology, 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

Altered subthalamic alpha-beta oscillations in PRKN-associated early onset Parkinson's disease in relation to off-dystonia.

Pavlovsky P et al.

Parkinsonism & Related Disorders, 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

Heat shock protein 10 as a chaperone modulating α-synuclein amyloid fibril formation.

Larsson JNK et al.

Protein Science : a Publication of the Protein Society, 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

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

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

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

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

Tyoe O et al.

Biophysics Reports, 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

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

The Yeast Parkinson's Disease Model Exhibits An Increase in Peroxisome Number Independent of the Division Proteins Vps1 and Dnm1.

Sarhadi TR et al.

Molecular Neurobiology, 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

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 Conserved MicroRNAs Motif Reveals TDP-43 Pathology and MAPK Pathway Activation in Parkinson's Disease.

Luan M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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

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

Autophagy-Lysosome Pathway in Multiple System Atrophy Pathogenesis: The Best Is Yet to Come.

Mavroeidi P et al.

International Journal of Molecular Sciences, 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

Inherited Genetic Variation in Parkinson's Disease: Convergence on Impaired Autophagosome-Lysosome Fusion Through the Altered Expression of mRNA Isoforms.

Gokuladhas S et al.

Molecular Neurobiology, 2025

Melatonin-Mediated Nrf2 Activation as a Potential Therapeutic Strategy in Mutation-Driven Neurodegenerative Diseases.

Íñigo-Catalina L et al.

Antioxidants (basel, Switzerland), 2025

Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson's disease and dementia with Lewy bodies.

Vidyadhara DJ et al.

Nature Communications, 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

Screening of Hidden Pathogenic Structural Variants in PRKN.

Daida K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

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