Structural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48Q

Over 100 mutations in the gene encoding human copper-zinc superoxide dismutase (SOD1) cause an inherited form of the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS). Two pathogenic SOD1 mutations, His46Arg (H46R) and His48Gln (H48Q), affect residues that act as copper ligands in...

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Main Authors: Winkler, Duane D., Schuermann, Jonathan P., Cao, Xiaohang, Holloway, Stephen P., Borchelt, David R., Carroll, Mark C., Proescher, Jody B., Culotta, Valeria C., Hart, P. John
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2757159/
https://ncbi.nlm.nih.gov/pubmed/19227972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi8021735
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