Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G51D
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SNCA

NM_000345.4:p.G51D

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

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

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

Li B et al.

Research Square, 2026

A novel brainstem-targeted G51D α-synuclein fibril-injected mouse model exhibits sequential emergence of sleep and motor dysfunction.

Yasugaki S et al.

Neuroscience Research, 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

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

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

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

Parkinson disease is a fatty acidopathy.

Fanning S et al.

Nature Reviews. Neurology, 2025

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

Gadhavi J et al.

Acs Chemical Neuroscience, 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

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

IR Action Spectroscopy of Mass- and Mobility-Selected α-Synuclein Segments: Structure Identification in Early-Stage Oligomers via the Amide A Region.

Depraz Depland A et al.

The Journal of Physical Chemistry. A, 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

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

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

Amyloid formation of alternatively spliced variants of α-synuclein.

SanGiovanni DQ et al.

Protein Science : a Publication of the Protein Society, 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

Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.

Eubanks E et al.

Cell Reports, 2025

40317721 (PubMed )
Supplement: NIHMS2085673-supplement-1.pdf

Structural and functional insights into the nuclear role of Parkinson's disease-associated α-synuclein as a histone chaperone.

Jos S et al.

Communications Biology, 2025

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

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

Effect of hydrogen sulfide on alpha-synuclein aggregation and cell viability.

Ostrakhovitch EA et al.

Scientific Reports, 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

Single extracellular vesicle detection assay identifies membrane-associated α-synuclein as an early-stage biomarker in Parkinson's disease.

Yan S et al.

Cell Reports. Medicine, 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 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

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