Article
A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Mar 2015
Dangoumau Audrey, Deschamps Romain, Veyrat-Durebex Charlotte, Pettmann Brigitte, Corcia Philippe, Andres Christian R, Vourc'h Patrick
Abstract excerpt
Mutations in the SOD1 gene encoding the Cu/Zn superoxide dismutase-1 protein are responsible for amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. To date a large number of mutations have been reported in SOD1, but only few of them have been studied and validated by functional studies. We present a novel mutation in SOD1 in a female suffering from slowly progressive ALS. This dominant...
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