Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G93A
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SNCA

NM_000345.4:p.G93A

Associated Papers

Efficient induction of motor neuron disease in transgenic G93A SOD1 mice by prion-like seeding.

Xu G et al.

Prion, 2026

Dysbiosis and Neurodegeneration in ALS: Unraveling the Gut-Brain Axis.

Sharma VK

Neuromolecular Medicine, 2025

Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment.

Smith R et al.

European Journal of Neurology, 2024

Contribution of A-to-I RNA editing, M6A RNA Methylation, and Alternative Splicing to physiological brain aging and neurodegenerative diseases.

Tassinari V et al.

Mechanisms of Ageing and Development, 2023

Drosophila melanogaster as a model to study autophagy in neurodegenerative diseases induced by proteinopathies.

Santarelli S et al.

Frontiers in Neuroscience, 2023

Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

Roberts B et al.

International Journal of Molecular Sciences, 2022

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

Fevga C et al.

Parkinsonism & Related Disorders, 2021

Small Heat Shock Proteins, Big Impact on Protein Aggregation in Neurodegenerative Disease.

Webster JM et al.

Frontiers in Pharmacology, 2019

Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases.

Kawamata H et al.

The Journal of Cell Biology, 2017

Diversity of astroglial responses across human neurodegenerative disorders and brain aging.

Ferrer I

Brain Pathology (zurich, Switzerland), 2017

Are Astrocytes the Predominant Cell Type for Activation of Nrf2 in Aging and Neurodegeneration?

Liddell JR

Antioxidants (basel, Switzerland), 2017

Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS.

Ayers JI et al.

Acta Neuropathologica, 2016

Improved proteostasis in the secretory pathway rescues Alzheimer's disease in the mouse.

Peng Y et al.

Brain : a Journal of Neurology, 2016

Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways.

Ayers JI et al.

Acta Neuropathologica, 2016

Endoplasmic reticulum stress is important for the manifestations of α-synucleinopathy in vivo.

Colla E et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

Dorfin ameliorates phenotypes in a transgenic mouse model of amyotrophic lateral sclerosis.

Sone J et al.

Journal of Neuroscience Research, 2010

Proteomic characterization of lipid raft proteins in amyotrophic lateral sclerosis mouse spinal cord.

Zhai J et al.

The Febs Journal, 2009

Destabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicity.

Gidalevitz T et al.

Plos Genetics, 2009

Loss of metal ions, disulfide reduction and mutations related to familial ALS promote formation of amyloid-like aggregates from superoxide dismutase.

Oztug Durer ZA et al.

Plos One, 2009

How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

Shaw BF et al.

Trends in Biochemical Sciences, 2007

Redox metals and neurodegenerative disease.

Sayre LM et al.

Current Opinion in Chemical Biology, 1999

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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."