Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.Q31Q
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RPS27A

NM_002954.6:p.Q31Q

Associated Papers

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

Xu G et al.

Prion, 2026

An ALS-associated mutant SOD1 protein can be eliminated in microglia culture by selective autophagy.

Murakami K et al.

Neuroscience, 2026

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

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

Liddell JR

Antioxidants (basel, Switzerland), 2017

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.

Keskin I et al.

Plos One, 2016

SOD1 and DJ-1 converge at Nrf2 pathway: a clue for antioxidant therapeutic potential in neurodegeneration.

Milani P et al.

Oxidative Medicine and Cellular Longevity, 2013

Nrf2/ARE Signaling Pathway: Key Mediator in Oxidative Stress and Potential Therapeutic Target in ALS.

Petri S et al.

Neurology Research International, 2012

Genetic rodent models of amyotrophic lateral sclerosis.

Van Den Bosch L

Journal of Biomedicine & Biotechnology, 2011

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

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.

Kawamata H et al.

Human Molecular Genetics, 2008

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

Shaw BF et al.

Trends in Biochemical Sciences, 2007

Effect of ubiquitin expression on neuropathogenesis in a mouse model of familial amyotrophic lateral sclerosis.

Gilchrist CA et al.

Neuropathology and Applied Neurobiology, 2005

Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading.

Subramaniam JR et al.

Nature Neuroscience, 2002

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

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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."