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Article

Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.

Human molecular genetics - 1 May 2015

Pettinati Ilaria, Brem Jürgen, McDonough Michael A, Schofield Christopher J

Abstract excerpt

The ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione. Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 is a mono-i...

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Identifiers

PMID: 25596185
DOI: 10.1093/hmg/ddv007
PMCID: PMC4383860

Genes

ETHE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25596185-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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