Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K6N
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SNCA

NM_000345.4:p.K6N

Associated Papers

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

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

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

Sobhifar P et al.

Brain Sciences, 2025

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

Soni R et al.

International Journal of Biological Macromolecules, 2025

Analysis and comparison of post-translational modifications of α-synuclein filaments in multiple system atrophy and dementia with Lewy bodies.

Kametani F et al.

Scientific Reports, 2024

Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Uribe Roca MC

Parkinsonism & Related Disorders, 2024

Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.

Sharma K et al.

Molecular Biology Reports, 2024

Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.

Kishore A et al.

Npj Parkinson's Disease, 2024

Liquid-liquid phase separation of α-synuclein is highly sensitive to sequence complexity.

Mahapatra A et al.

Protein Science : a Publication of the Protein Society, 2024

In silico analysis of alpha-synuclein protein variants and posttranslational modifications related to Parkinson's disease.

da Silva ANR et al.

Journal of Cellular Biochemistry, 2024

Alpha-synuclein pathology is associated with astrocyte senescence in a midbrain organoid model of familial Parkinson's disease.

Muwanigwa MN et al.

Molecular and Cellular Neurosciences, 2024

Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.

Dulski J et al.

Neurologia I Neurochirurgia Polska, 2024

The interaction between alpha-synuclein and mitochondrial dysfunction in Parkinson's disease.

Li HY et al.

Biophysical Chemistry, 2023

Liquid-liquid phase separation of α-synuclein is highly sensitive to sequence complexity.

Mahapatra A et al.

Biorxiv : the Preprint Server for Biology, 2023

Transcriptional mutagenesis of α-synuclein caused by DNA oxidation in Parkinson's disease pathogenesis.

Basu S et al.

Acta Neuropathologica, 2023

In Silico Evaluation of the Potential Association of the Pathogenic Mutations of Alpha Synuclein Protein with Induction of Synucleinopathies.

Elnageeb ME et al.

Diseases (basel, Switzerland), 2023

Parkinson's disease - genetic cause.

Cherian A et al.

Current Opinion in Neurology, 2023

Sporadic SNCA mutations A18T and A29S exhibit variable effects on protein aggregation, cell viability and oxidative stress.

Joshi N et al.

Molecular Biology Reports, 2023

Discerning Modulation of α-Synuclein Amyloid Assembly by α-Crystallin.

Pippal B et al.

Acs Chemical Neuroscience, 2023

Single point mutations at the S129 residue of α-synuclein and their effect on structure, aggregation, and neurotoxicity.

Pandit E et al.

Frontiers in Chemistry, 2023

Effects of Mutations and Post-Translational Modifications on α-Synuclein In Vitro Aggregation.

Pancoe SX et al.

Journal of Molecular Biology, 2022

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

Mechanisms of enhanced aggregation and fibril formation of Parkinson's disease-related variants of α-synuclein.

Ohgita T et al.

Scientific Reports, 2022

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Fevga C et al.

Parkinsonism & Related Disorders, 2021

34229155 (PubMed )
Supplement: NIHMS1752483-supplement-MMC1.docx

Targeted attenuation of elevated histone marks at SNCA alleviates α-synuclein in Parkinson's disease.

Guhathakurta S et al.

Embo Molecular Medicine, 2021

Reverse engineering Lewy bodies: how far have we come and how far can we go?

Fares MB et al.

Nature Reviews. Neuroscience, 2021

Genetics of Parkinson's disease in the Polish population.

Milanowski ŁM et al.

Neurologia I Neurochirurgia Polska, 2021

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Guo Y et al.

Frontiers in Aging Neuroscience, 2021

Alpha-Synuclein Aggregation in Parkinson's Disease.

Srinivasan E et al.

Frontiers in Medicine, 2021

Cognitive Impairment in Genetic Parkinson's Disease.

Planas-Ballvé A et al.

Parkinson's Disease, 2021

Genetics of Parkinson's disease.

Cherian A et al.

Acta Neurologica Belgica, 2020

Possible Role of Amyloidogenic Evolvability in Dementia with Lewy Bodies: Insights from Transgenic Mice Expressing P123H β-Synuclein.

Fujita M et al.

International Journal of Molecular Sciences, 2020

Pathogenic Mutations Differentially Regulate Cell-to-Cell Transmission of α-Synuclein.

Guan Y et al.

Frontiers in Cellular Neuroscience, 2020

Common genetic variants associated with Parkinson's disease display widespread signature of epigenetic plasticity.

Sharma A et al.

Scientific Reports, 2019

Neuronal microtubules and proteins linked to Parkinson's disease: a relevant interaction?

Calogero AM et al.

Biological Chemistry, 2019

Different Effects of α-Synuclein Mutants on Lipid Binding and Aggregation Detected by Single Molecule Fluorescence Spectroscopy and ThT Fluorescence-Based Measurements.

Ruf VC et al.

Acs Chemical Neuroscience, 2019

The Roles of Post-translational Modifications on α-Synuclein in the Pathogenesis of Parkinson's Diseases.

Zhang J et al.

Frontiers in Neuroscience, 2019

Comparison of Kinetics, Toxicity, Oligomer Formation, and Membrane Binding Capacity of α-Synuclein Familial Mutations at the A53 Site, Including the Newly Discovered A53V Mutation.

Mohite GM et al.

Biochemistry, 2018

Genetics of Synucleinopathies.

Nussbaum RL

Cold Spring Harbor Perspectives in Medicine, 2018

Role of Sporadic Parkinson Disease Associated Mutations A18T and A29S in Enhanced α-Synuclein Fibrillation and Cytotoxicity.

Kumar S et al.

Acs Chemical Neuroscience, 2018

Pore-Forming Proteins as Mediators of Novel Epigenetic Mechanism of Epilepsy.

Surguchov A et al.

Frontiers in Neurology, 2017

Genetic Variants in SNCA and the Risk of Sporadic Parkinson's Disease and Clinical Outcomes: A Review.

Campêlo CLDC et al.

Parkinson's Disease, 2017

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Tambasco N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2016

The contribution of alpha synuclein to neuronal survival and function - Implications for Parkinson's disease.

Benskey MJ et al.

Journal of Neurochemistry, 2016

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Petrucci S et al.

Parkinsonism & Related Disorders, 2016

Identification of synaptosomal proteins binding to monomeric and oligomeric α-synuclein.

Betzer C et al.

Plos One, 2015

Role of genomics in translational research for Parkinson's disease.

Sekiyama K et al.

Biochemical and Biophysical Research Communications, 2014

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Fujioka S et al.

Parkinsonism & Related Disorders, 2014

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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."