Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.

@article{Tsuda1994AnalysisOT,
  title={Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.},
  author={Tomiyasu Tsuda and S Munthasser and Paul E. Fraser and Maire E. Percy and Innocenzo Rainero and Giovanna Vaula and Lorenzo Pinessi and Ludovico Bergamini and G Vignocchi and Donald R. C. McLachlan},
  journal={Neuron},
  year={1994},
  volume={13 3},
  pages={727-36}
}
Mutations in the Cu, Zn superoxide dismutase (SOD1) gene have been reported in some pedigrees with Familial Amyotrophic Lateral Sclerosis (FALS). We have investigated the functional and structural effects of a Gly-->Ser mutation at codon 41 of SOD1 in a pedigree with FALS and the topography of SOD1 expression in the mammalian CNS. These analyses show that the 41Gly-->Ser mutation causes a 27% reduction in Cu, Zn SOD activity. SOD1 is transcribed at high levels in rat motoneurons and four other… CONTINUE READING

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