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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5166
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pubmed:dateCreated |
1994-7-12
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pubmed: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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0036-8075
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
17
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pubmed:volume |
264
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
1772-5
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pubmed:dateRevised |
2007-3-19
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pubmed:meshHeading |
pubmed-meshheading:8209258-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:8209258-Animals,
pubmed-meshheading:8209258-Brain,
pubmed-meshheading:8209258-Disease Models, Animal,
pubmed-meshheading:8209258-Female,
pubmed-meshheading:8209258-Humans,
pubmed-meshheading:8209258-Male,
pubmed-meshheading:8209258-Mice,
pubmed-meshheading:8209258-Mice, Inbred C57BL,
pubmed-meshheading:8209258-Mice, Transgenic,
pubmed-meshheading:8209258-Motor Endplate,
pubmed-meshheading:8209258-Motor Neuron Disease,
pubmed-meshheading:8209258-Motor Neurons,
pubmed-meshheading:8209258-Muscles,
pubmed-meshheading:8209258-Mutation,
pubmed-meshheading:8209258-Pedigree,
pubmed-meshheading:8209258-Spinal Cord,
pubmed-meshheading:8209258-Superoxide Dismutase
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pubmed:year |
1994
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pubmed:articleTitle |
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.
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pubmed:affiliation |
Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL 60611.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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