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

      Science (New York, N.Y.)

      metabolism, Amyotrophic Lateral Sclerosis, enzymology, genetics, pathology, Animals, Brain, Disease Models, Animal, Female, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Motor Endplate, Motor Neuron Disease, Motor Neurons, Muscles, innervation, Mutation, Pedigree, Spinal Cord, Superoxide Dismutase

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          Abstract

          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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          8209258

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