| First Author | Gurney ME | Year | 1994 |
| Journal | Science | Volume | 264 |
| Issue | 5166 | Pages | 1772-5 |
| PubMed ID | 8209258 | Mgi Jnum | J:32665 |
| Mgi Id | MGI:80155 | Doi | 10.1126/science.8209258 |
| Citation | Gurney ME, et al. (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation [see comments] [published erratum appears in Science 1995 Jul 14;269(5221):149]. Science 264(5166):1772-5 |
| abstractText | 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. |
