Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

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 de...

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Bibliographic Details
Main Authors: Bárbara J Henriques, Tânia G Lucas, João V Rodrigues, Jane H Frederiksen, Miguel S Teixeira, Valeria Tiranti, Peter Bross, Cláudio M Gomes
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4157841?pdf=render

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http://europepmc.org/articles/PMC4157841?pdf=render

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