Title : Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.

Pub. Date : 2009 Apr 21

PMID : 19227972






1 Functional Relationships(s)
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1 These properties include the following: (1) an ablated copper-binding site, (2) a substantially weakened affinity for zinc, (3) a binding site for a calcium ion, (4) the ability to form stable heterocomplexes with the copper chaperone for SOD1 (CCS), and (5) compromised CCS-mediated oxidation of the intrasubunit disulfide bond in vivo. Disulfides superoxide dismutase 1 Homo sapiens