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Li, V. ETHE1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5432 (accessed on 21 September 2026).
Li V. ETHE1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5432. Accessed September 21, 2026.
Li, Vivi. "ETHE1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5432 (accessed September 21, 2026).
Li, V. (2020, December 24). ETHE1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5432
Li, Vivi. "ETHE1 Gene." Encyclopedia. Web. 24 December, 2020.
ETHE1 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ethe1

ETHE1, persulfide dioxygenase

genes

References

  1. Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V. Chronicexposure to sulfide causes accelerated degradation of cytochrome c oxidase inethylmalonic encephalopathy. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62.doi: 10.1089/ars.2010.3520.
  2. Pettinati I, Brem J, McDonough MA, Schofield CJ. Crystal structure of humanpersulfide dioxygenase: structural basis of ethylmalonic encephalopathy. Hum Mol Genet. 2015 May 1;24(9):2458-69. doi: 10.1093/hmg/ddv007.
  3. Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F,Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM,Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to ethylmalonicencephalopathy. J Med Genet. 2006 Apr;43(4):340-6.
  4. 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. Ethylmalonic encephalopathyis caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52.
  5. Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD,Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrialdioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. NatMed. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907.Nat Med. 2009 Feb;15(2):220.
  6. Tiranti V, Zeviani M. Altered sulfide (H(2)S) metabolism in ethylmalonicencephalopathy. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi:10.1101/cshperspect.a011437. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 705
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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