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Article

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

Biochemistry - 21 Apr 2009

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

Abstract excerpt

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 the wild type enzyme. Transgenic mice expressing a human SOD1 variant containing both mutations develop paralytic...

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Identifiers

PMID: 19227972
DOI: 10.1021/bi8021735
PMCID: PMC2757159

Genes

SOD1
CCS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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