Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A53T
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SNCA

NM_000345.4:p.A53T

Associated Papers

Advanced age and lipopolysaccharide influence behavioral and neurodegenerative features in LRRK2 G2019S knock-in mice.

Dinesh A et al.

Behavioural Brain Research, 2026

Roles in physiology and disease of the inositol phosphatase synaptojanin 1.

De Camilli P

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2026

Unraveling Parkinson's disease: The mystery of mitochondria and the role of aging.

Liu T et al.

Genes & Diseases, 2026

Familial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey.

Işeri P et al.

Neurocase, 2026

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

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

Gene therapy targeting synaptopathy linked with Alzheimer's and Parkinson's disease.

Panda SP et al.

Neuroscience, 2026

SNCA triplication disrupts proteostasis and extracellular architecture prior to neurodegeneration in human midbrain organoids.

Statoulla E et al.

Npj Parkinson's Disease, 2026

α-Synuclein aggregation and brain atrophy in SNCA-A53T transgenic monkeys correlate with parkinsonism.

Wei J et al.

Brain : a Journal of Neurology, 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

Autophagy-related proteomics reveals lysosomal alterations linked to C19orf12 mutations and candidate biomarkers in MPAN patients' fibroblasts.

Pakula B et al.

Neurobiology of Disease, 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

Concentration-dependent mutational scanning probes the cellular folding landscape of α-synuclein in yeast.

Noh D et al.

Protein Science : a Publication of the Protein Society, 2026

OTUD6A drives dopaminergic neuronal degeneration of Parkinson's disease through deubiquitinating ACTG1 in neuronal cells.

Zhao X et al.

Acta Pharmaceutica Sinica. B, 2026

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

Bae EJ et al.

Nature Communications, 2026

Loss of serotonergic function in carriers of PRKN mutations: a [11C]DASB PET study.

de Natale ER et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2026

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

Goyal P et al.

Brain Sciences, 2026

LRRK2 controls COX assembly through regulation of redox status of mitochondrial copper chaperones.

Kim TY et al.

Redox Biology, 2026

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

Mohamed YA et al.

Neuroscience, 2026

Inhibition of de novo ceramide synthesis mitigates alpha-synuclein pathology in a Parkinson's disease mouse model.

Lee E et al.

Npj Parkinson's Disease, 2026

Neuroimaging and Pathology Biomarkers in Parkinson's Disease and Parkinsonism.

Cilia R et al.

Brain Sciences, 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

Identification of KHS-101 as a Transcription Factor EB Activator to Promote α-Synuclein Degradation.

Zhu H et al.

International Journal of Molecular Sciences, 2026

Early retinal synaptic dysfunction and proteomic remodeling precede neurodegeneration in a Parkinson's disease model.

Moon CE et al.

Npj Parkinson's Disease, 2026

Alpha-Synuclein Dynamics in Cerebral Ischemia.

Bordbar S et al.

Asn Neuro, 2026

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

Ranjan P et al.

Acs Chemical Neuroscience, 2026

Unraveling Peripheral Neuropathy in Parkinsonism from Acquired to Genetic Forms: A Review with Diagnostic Framework for Clinicians.

Moreno-Lopez C et al.

Movement Disorders Clinical Practice, 2026

NLRP3 facilitates α-synuclein-induced dopaminergic neuronal senescence in a mouse model of Parkinson's disease through SATB1/DNA damage/p21 signaling pathway.

Chen LL et al.

Acta Pharmacologica Sinica, 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

The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.

Vico IAD et al.

Movement Disorders Clinical Practice, 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

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

A unique microglia subset associated with aggressive α-synucleinopathy uncovered in a rapidly progressive multiple system atrophy cerebellar type model.

Matsuse D et al.

Neurobiology of Disease, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 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

Multiple system atrophy: advances in pathogenesis and emerging therapeutic strategies.

Chen Z et al.

Journal of Neurology, 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

Disrupting α-Synuclein-ClpP interaction restores mitochondrial function and attenuates neuropathology in Parkinson's disease models.

Hu D et al.

Molecular Neurodegeneration, 2025

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

Treviño M et al.

Brain Sciences, 2025

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

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