Varaico: Literature-Extracted Genetic Variants

Gene:SNCB
Variant:p.E46K
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SNCB

NM_003085.5:p.E46K

Associated Papers

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.

Firdaus Z et al.

International Journal of Molecular Sciences, 2024

Change in the Oligomeric State of α-Synuclein Variants in Living Cells.

Fan HF et al.

Acs Chemical Neuroscience, 2022

Consequences of variability in α-synuclein fibril structure on strain biology.

Holec SAM et al.

Acta Neuropathologica, 2022

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Familial Parkinson's point mutation abolishes multiple system atrophy prion replication.

Woerman AL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Steady-State Kinetics of α-Synuclein Ferrireductase Activity Identifies the Catalytically Competent Species.

McDowall JS et al.

Biochemistry, 2017

Alpha-synuclein at the intracellular and the extracellular side: functional and dysfunctional implications.

Ottolini D et al.

Biological Chemistry, 2017

α-Synuclein increases β-amyloid secretion by promoting β-/γ-secretase processing of APP.

Roberts HL et al.

Plos One, 2017

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

Alpha-synuclein is a cellular ferrireductase.

Davies P et al.

Plos One, 2011

Differential phospholipid binding of alpha-synuclein variants implicated in Parkinson's disease revealed by solution NMR spectroscopy.

Bodner CR et al.

Biochemistry, 2010

Neurotoxic conversion of beta-synuclein: a novel approach to generate a transgenic mouse model of synucleinopathies?

Fujita M et al.

Journal of Neurology, 2009

Detecting morphologically distinct oligomeric forms of alpha-synuclein.

Emadi S et al.

The Journal of Biological Chemistry, 2009

Sequence determinants regulating fibrillation of human alpha-synuclein.

Koo HJ et al.

Biochemical and Biophysical Research Communications, 2008

Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells.

Rott R et al.

The Journal of Biological Chemistry, 2008

Synuclein proteins of the pufferfish Fugu rubripes: sequences and functional characterization.

Yoshida H et al.

Biochemistry, 2006

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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."