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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Mynediad Ar-lein: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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