C. Falker-Gieske

Metabolic alterations in the absence of a neuromuscular phenotype in humanized SOD1A5V mice

Abstract Amyotrophic lateral sclerosis caused by mutations in superoxide dismutase 1 (SOD1) accounts for 15–30% of familial cases and is typically autosomal dominant. How single amino acid changes in this small protein cause neurodegeneration is unknown. In North America, SOD1A5V is the most common familial SOD1 mutati...