Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.E31E
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CSF2

NM_000758.4:p.E31E

Associated Papers

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

Murakami K et al.

Neuroscience, 2026

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

Sharma VK

Neuromolecular Medicine, 2025

Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis.

Andrés-Benito P et al.

Journal of Neuropathology and Experimental Neurology, 2019

Aproximación genética en la esclerosis lateral amiotrófica.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

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

Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia.

Yang WZ et al.

Journal of Translational Medicine, 2011

Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients.

Zetterström P et al.

Journal of Neurochemistry, 2011

The Role of immune and inflammatory mechanisms in ALS.

McCombe PA et al.

Current Molecular Medicine, 2011

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways.

Allen S et al.

The Journal of Biological Chemistry, 2003

Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?

Wyss M et al.

Neuroscience, 2002

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment.

Pramatarova A et al.

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