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Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.
Hum Mol Genet. 2015 May 1;24(9):2458-69. doi: 10.1093/hmg/ddv007. Epub 2015 Jan 16.
Hum Mol Genet. 2015.
PMID: 25596185
Free PMC article.
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
Kabil O, Banerjee R.
Kabil O, et al.
J Biol Chem. 2012 Dec 28;287(53):44561-7. doi: 10.1074/jbc.M112.407411. Epub 2012 Nov 9.
J Biol Chem. 2012.
PMID: 23144459
Free PMC article.
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Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M.
Tiranti V, et al.
Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11.
Nat Med. 2009.
PMID: 19136963
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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V.
Mineri R, et al.
J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271.
J Med Genet. 2008.
PMID: 18593870
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