Article
Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.
PloS one - 1 Jan 2013
Moreira Lorenna Giannini Alves, Pereira Livia Costa, Drummond Priscila Ramalho, De Mesquita Joelma Freire
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with familial inheritance (fALS) in 5% to 10% of cases; 25% of those are caused by mutations in the superoxide dismutase 1 (SOD1) protein. More than 100 mutations in the SOD1 gene have been associated with fALS, altering the geometry of the active site, protein folding and the interaction between monomers. We performed a functional analysis...
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