Article
Motor neuron disease caused by mutations in superoxide dismutase 1.
Current opinion in neurology - 1 Aug 1995
Wong P C, Borchelt D R
Abstract excerpt
A subset of pedigrees with dominant inheritance of familial amyotrophic lateral sclerosis have mutations in superoxide dismutase 1. Initial studies suggested that disease-linked mutations impaired superoxide dismutase 1 activity, which is consistent with the notion that disease results from incre...
Topics
- Amyotrophic Lateral Sclerosis
- Animals
- Cell Line
- DNA Mutational Analysis
- Genes, Dominant
- Humans
- Isoenzymes
- Mice
- Mice, Transgenic
- Nerve Degeneration
- Phenotype
- Superoxide Dismutase