SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Superoxide dismutase 1 (SOD1) is the principal cytoplasmic superoxide dismutase in humans and plays a major role in redox potential regulation. It catalyses the transformation of the superoxide anion (O(2)(•−)) into hydrogen peroxide. Heterozygous variants in SOD1 are a common cause of familial amyo...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6658856/
https://ncbi.nlm.nih.gov/pubmed/31332433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz182
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