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

Mark E. Gurney*, Haifeng Pu, Arlene Y. Chiu, Mauro Carlo Dal Canto, Cynthia Y. Polchow, Denise D. Alexander, Jan Caliendo, Afif Hentati, Young W. Kwon, Han-Xiang Deng, Wenje Chen, Ping Zhai, Robert L Sufit, Teepu Siddique

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3178 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1772-1775
Number of pages4
JournalScience
Volume264
Issue number5166
DOIs
StatePublished - Jan 1 1994

ASJC Scopus subject areas

  • General

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