Article
Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease.
Human molecular genetics - 15 Aug 2002
Kirby Janine, Menzies Fiona M, Cookson Mark R, Bushby Katherine, Shaw Pamela J
Abstract excerpt
Motor neurone disease is caused by mutations in Cu/Zn superoxide dismutase (SOD1) in 15-20% of familial cases, due to a toxic gain of function by the mutant enzyme. However, the underlying mechanism of SOD1-mediated neurodegeneration remains uncertain. By investigating alterations in gene expression in the presence of mutant Cu/Zn SOD, we aimed to identify pathways that contribute to motor neurone injury and cell...
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