PhenomeGene — Human Disease Gene Website SeriesETHE1

Publications

Di Meo I et al.Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.Antioxid Redox Signal. 2011;15(2):353-62. PMID: 20812865.

Tiranti V et al.Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004;74(2):239-52. PMID: 14732903.

Tiranti V et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009;15(2):200-5. PMID: 19136963.