Varaico: Literature-Extracted Genetic Variants

Gene:SOD2
Variant:p.G93A
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SOD2

NM_000636.4:p.G93A

Associated Papers

Reduced net charge and heterogeneity of pI isoforms in familial amyotrophic lateral sclerosis mutants of copper/zinc superoxide dismutase.

Roudeau S et al.

Electrophoresis, 2015

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

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

Zhai J et al.

The Febs Journal, 2009

Sod2 haploinsufficiency does not accelerate aging of telomere dysfunctional mice.

Guachalla LM et al.

Aging, 2009

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

Kawamata H et al.

Human Molecular Genetics, 2008

Informatics-assisted protein profiling in a transgenic mouse model of amyotrophic lateral sclerosis.

Lukas TJ et al.

Molecular & Cellular Proteomics : Mcp, 2006

Mitochondrial proteomic analysis of a cell line model of familial amyotrophic lateral sclerosis.

Fukada K et al.

Molecular & Cellular Proteomics : Mcp, 2004

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

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.

Menzies FM et al.

Brain : a Journal of Neurology, 2002

Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord.

Olsen MK et al.

Annals of Neurology, 2001

Selective changes in mitochondria respiratory properties in oxidative or glycolytic muscle fibers isolated from G93AhumanSOD1 transgenic mice.

Leclerc N et al.

Neuromuscular Disorders : Nmd, 2001

Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis.

Tomkins J et al.

Neuroreport, 2001

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

Oxidative stress and motor neurone disease.

Cookson MR et al.

Brain Pathology (zurich, Switzerland), 1999

Metabolic dysfunction in familial, but not sporadic, amyotrophic lateral sclerosis.

Browne SE et al.

Journal of Neurochemistry, 1998

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.

Juneja T et al.

Neurology, 1997

Genetics of amyotrophic lateral sclerosis.

Siddique T et al.

Human Molecular Genetics, 1996

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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."