Varaico: Literature-Extracted Genetic Variants

Gene:SNCB
Variant:p.A30P
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SNCB

NM_003085.5:p.A30P

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

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

Suvarna V et al.

Frontiers in Pharmacology, 2022

Genetics of synucleins in neurodegenerative diseases.

Brás J et al.

Acta Neuropathologica, 2021

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

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

G2019S-LRRK2 Expression Augments α-Synuclein Sequestration into Inclusions in Neurons.

Volpicelli-Daley LA et al.

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

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

Protein targets of oxidative damage in human neurodegenerative diseases with abnormal protein aggregates.

Martínez A et al.

Brain Pathology (zurich, Switzerland), 2010

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

Recent advances in the genetics of dementia with lewy bodies.

Bonifati V

Current Neurology and Neuroscience Reports, 2008

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

Alpha-synuclein overexpression increases cytosolic catecholamine concentration.

Mosharov EV et al.

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

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

Yoshida H et al.

Biochemistry, 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

Evidence that alpha-synuclein functions as a negative regulator of Ca(++)-dependent alpha-granule release from human platelets.

Park SM et al.

Blood, 2002

Amyloid precursor protein, presenilins, and alpha-synuclein: molecular pathogenesis and pharmacological applications in Alzheimer's disease.

Suh YH et al.

Pharmacological Reviews, 2002

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

alpha-Synuclein affects the MAPK pathway and accelerates cell death.

Iwata A et al.

The Journal of Biological Chemistry, 2001

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."