Varaico: Literature-Extracted Genetic Variants

Gene:SNCB
Variant:p.A53T
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SNCB

NM_003085.5:p.A53T

Associated Papers

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

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

miRNA and antisense oligonucleotide-based α-synuclein targeting as disease-modifying therapeutics in Parkinson's disease.

Suvarna V et al.

Frontiers in Pharmacology, 2022

In vivo aggregation of presynaptic alpha-synuclein is not influenced by its phosphorylation at serine-129.

Weston LJ et al.

Neurobiology of Disease, 2021

Genetics of synucleins in neurodegenerative diseases.

Brás J et al.

Acta Neuropathologica, 2021

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy.

Guerrero-Ferreira R et al.

Current Opinion in Neurobiology, 2020

Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by α-Synuclein.

Cuddy LK et al.

Neuron, 2019

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

Glia and alpha-synuclein in neurodegeneration: A complex interaction.

Brück D et al.

Neurobiology of Disease, 2016

The loss of inhibitory C-terminal conformations in disease associated P123H β-synuclein.

Janowska MK et al.

Protein Science : a Publication of the Protein Society, 2016

Transient β-hairpin formation in α-synuclein monomer revealed by coarse-grained molecular dynamics simulation.

Yu H et al.

The Journal of Chemical Physics, 2015

Age-dependent effects of A53T alpha-synuclein on behavior and dopaminergic function.

Oaks AW et al.

Plos One, 2013

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

Wales P et al.

Journal of Parkinson's Disease, 2013

Macroautophagy in sporadic and the genetic form of Parkinson's disease with the A53T α-synuclein mutation.

Huang Y et al.

Translational Neurodegeneration, 2012

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

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

Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.

Wei J et al.

The Journal of Biological Chemistry, 2007

Beta-synuclein modulates alpha-synuclein neurotoxicity by reducing alpha-synuclein protein expression.

Fan Y et al.

Human Molecular Genetics, 2006

Alpha-synuclein overexpression increases cytosolic catecholamine concentration.

Mosharov EV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

Alpha-synuclein phosphorylation enhances eosinophilic cytoplasmic inclusion formation in SH-SY5Y cells.

Smith WW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

Pathogenic effects of alpha-synuclein aggregation.

Lundvig D et al.

Brain Research. Molecular Brain Research, 2005

Part II: alpha-synuclein and its molecular pathophysiological role in neurodegenerative disease.

Dev KK et al.

Neuropharmacology, 2003

Differential neuropathological alterations in transgenic mice expressing alpha-synuclein from the platelet-derived growth factor and Thy-1 promoters.

Rockenstein E et al.

Journal of Neuroscience Research, 2002

Exposure to long chain polyunsaturated fatty acids triggers rapid multimerization of synucleins.

Perrin RJ et al.

The Journal of Biological Chemistry, 2001

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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."