Article
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
PloS one - 1 Jan 2014
Henriques Bárbara J, Lucas Tânia G, Rodrigues João V, Frederiksen Jane H, Teixeira Miguel S, Tiranti Valeria, Bross Peter, Gomes Cláudio M
Abstract excerpt
ETHE1 is an iron-containing protein from the metallo β-lactamase family involved in the mitochondrial sulfide oxidation pathway. Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE). Frequently mutations resulting in depletion of ETHE1 in patient cells are due to severe structural and folding defects. However, some ETHE1 mutations...
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