Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

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Science  17 Jun 1994:
Vol. 264, Issue 5166, pp. 1772-1775
DOI: 10.1126/science.8209258

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Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93--a change that has little effect on enzyme activity--caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.

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