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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Detalles Bibliográficos
Autores principales: Henriques, Bárbara J., Lucas, Tânia G., Rodrigues, João V., Frederiksen, Jane H., Teixeira, Miguel S., Tiranti, Valeria, Bross, Peter, Gomes, Cláudio M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157841/
https://www.ncbi.nlm.nih.gov/pubmed/25198162
http://dx.doi.org/10.1371/journal.pone.0107157

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