Article
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.
Neuron - 1 Sept 1994
Tsuda T, Munthasser S, Fraser P E, Percy M E, Rainero I, Vaula G, Pinessi L, Bergamini L, Vignocchi G, McLachlan D R
Abstract excerpt
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...
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