PubMed (OMIM) for id: 23474

Year	Number of Results
1991	1
1994	2
1997	1
1998	1
2002	2
2003	1
2004	1
2008	1
2009	1
2010	1
2011	1
2012	1
2024	0

1

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.

2

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M. Viscomi C, et al. Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25. Nat Med. 2010. PMID: 20657580

3

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V. Drousiotou A, et al. Clin Genet. 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x. Clin Genet. 2011. PMID: 20528888

4

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

5

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

6

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

7

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Mootha VK, et al. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14. Proc Natl Acad Sci U S A. 2003. PMID: 12529507 Free PMC article.

8

A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis.

Higashitsuji H, Higashitsuji H, Nagao T, Nonoguchi K, Fujii S, Itoh K, Fujita J. Higashitsuji H, et al. Cancer Cell. 2002 Oct;2(4):335-46. doi: 10.1016/s1535-6108(02)00152-6. Cancer Cell. 2002. PMID: 12398897 Free article.

9

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P. Grosso S, et al. J Neurol. 2002 Oct;249(10):1446-50. doi: 10.1007/s00415-002-0880-4. J Neurol. 2002. PMID: 12382164

10

Central nervous system malformations in ethylmalonic encephalopathy.

Nowaczyk MJ, Blaser SI, Clarke JT. Nowaczyk MJ, et al. Am J Med Genet. 1998 Jan 23;75(3):292-6. Am J Med Genet. 1998. PMID: 9475600

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