Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G13S
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SOD1

NM_000454.5:p.G13S

Associated Papers

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › ClinVarVariants_LLRps

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › ClinVar_ReferenceSet

Superoxide dismutase 1 is positively selected to minimize protein aggregation in great apes.

Dasmeh P et al.

Cellular and Molecular Life Sciences : Cmls, 2017

A prion-like mechanism for the propagated misfolding of SOD1 from in silico modeling of solvated near-native conformers.

Healy EF

Plos One, 2017

The potential for transition metal-mediated neurodegeneration in amyotrophic lateral sclerosis.

Lovejoy DB et al.

Frontiers in Aging Neuroscience, 2014

Role of excitatory amino acid transporter-2 (EAAT2) and glutamate in neurodegeneration: opportunities for developing novel therapeutics.

Kim K et al.

Journal of Cellular Physiology, 2011

Targeting angiogenin in therapy of amyotropic lateral sclerosis.

Kishikawa H et al.

Expert Opinion on Therapeutic Targets, 2008

Amyotrophic lateral sclerosis: Protein chaperone dysfunction revealed by proteomic studies of animal models.

Jain MR et al.

Proteomics. Clinical Applications, 2008

Overloading of stable and exclusion of unstable human superoxide dismutase-1 variants in mitochondria of murine amyotrophic lateral sclerosis models.

Bergemalm D et al.

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

Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase.

Couillard-Després S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

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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."