title: Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.
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.
authors.affiliation: Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL 60611.
authors.forename: M E
authors.initials: ME
authors.lastname: Gurney
authors.forename: H
authors.initials: H
authors.lastname: Pu
authors.forename: A Y
authors.initials: AY
authors.lastname: Chiu
authors.forename: M C
authors.initials: MC
authors.lastname: Dal Canto
authors.forename: C Y
authors.initials: CY
authors.lastname: Polchow
authors.forename: D D
authors.initials: DD
authors.lastname: Alexander
authors.forename: J
authors.initials: J
authors.lastname: Caliendo
authors.forename: A
authors.initials: A
authors.lastname: Hentati
authors.forename: Y W
authors.initials: YW
authors.lastname: Kwon
authors.forename: H X
authors.initials: HX
authors.lastname: Deng
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001921:Brain / Q000201:enzymology; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D009045:Motor Endplate / Q000473:pathology; D016472:Motor Neuron Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009046:Motor Neurons / Q000201:enzymology / Q000473:pathology; D009132:Muscles / Q000294:innervation / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism
chemical_list: D013482:Superoxide Dismutase