Article
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice.
Human molecular genetics - 15 Jan 2011
Wang Lijun, Gutmann David H, Roos Raymond P
Abstract excerpt
Approximately 10% of patients with amyotrophic lateral sclerosis (ALS) have familial ALS (FALS), and 20% of FALS are caused by mutations of superoxide dismutase type 1 (MTSOD1). The fact that some MTSOD1s that cause FALS have full dismutase activity (e.g. G37R) and others no dismutase activity (e.g. G85R) suggests that MTSOD1 causes FALS due to toxicity of the protein rather than a loss in enzymatic function....
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