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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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Accés en línia: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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