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Article

Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes.

Proceedings of the National Academy of Sciences of the United States of America - 28 Oct 2014

Pratt Ashley J, Shin David S, Merz Gregory E, Rambo Robert P, Lancaster W Andrew, Dyer Kevin N, Borbat Peter P, Poole Farris L, Adams Michael W W, Freed Jack H, Crane Brian R, Tainer John A, Getzoff Elizabeth D

Abstract excerpt

Protein framework alterations in heritable Cu, Zn superoxide dismutase (SOD) mutants cause misassembly and aggregation in cells affected by the motor neuron disease ALS. However, the mechanistic relationship between superoxide dismutase 1 (SOD1) mutations and human disease is controversial, with many hypotheses postulated for the propensity of specific SOD mutants to cause ALS. Here, we experimentally identify...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 25316790
DOI: 10.1073/pnas.1308531111
PMCID: PMC4217430

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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