Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.H50Q
Back to variants list

SNCA

NM_000345.4:p.H50Q

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

CPEB3 selectively inhibits α-synuclein aggregation without modulating TDP-43 pathology.

Babu AT et al.

Febs Letters, 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

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

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

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

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

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

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

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

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

Subramaniyan S et al.

Neurogenetics, 2025

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

Koros C et al.

Biomedicines, 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 drives NURR1 and NLRP3 Inflammasome dysregulation in Parkinson's disease: From pathogenesis to potential therapeutic strategies.

Abdelaziz AM

International Immunopharmacology, 2025

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

Ostrakhovitch EA et al.

Scientific Reports, 2025

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Erskine D et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST3

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

H50Q mutation in alpha-Synuclein impairs the insulin signaling pathway and induces neuroinflammation in the Drosophila model.

Rai P et al.

Experimental Cell Research, 2025

Unveiling the significance of synaptic proteins in parkinson's pathogenesis: A review.

Soni R et al.

International Journal of Biological Macromolecules, 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 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 role of Nα-terminal acetylation in protein conformation.

Calis S et al.

The Febs Journal, 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

1–50 of 485 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."