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Items: 1 to 20 of 98

1.

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.

Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Erratum in: Nat Med. 2009 Feb;15(2):220.

PMID:
19136963
2.

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.

Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V.

Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25.

PMID:
20812865
3.

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

Henriques BJ, Lucas TG, Rodrigues JV, Frederiksen JH, Teixeira MS, Tiranti V, Bross P, Gomes CM.

PLoS One. 2014 Sep 8;9(9):e107157. doi: 10.1371/journal.pone.0107157. eCollection 2014.

4.

Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development.

Holdorf MM, Owen HA, Lieber SR, Yuan L, Adams N, Dabney-Smith C, Makaroff CA.

Plant Physiol. 2012 Sep;160(1):226-36. doi: 10.1104/pp.112.201855. Epub 2012 Jul 10.

5.

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

Sahebekhtiari N, Thomsen MM, Sloth JJ, Stenbroen V, Zeviani M, Gregersen N, Viscomi C, Palmfeldt J.

Proteomics. 2016 Apr;16(7):1166-76. doi: 10.1002/pmic.201500336. Epub 2016 Mar 16.

PMID:
26867521
6.

Severe early onset ethylmalonic encephalopathy with West syndrome.

Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A.

Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21.

PMID:
26194623
7.

The mitochondrial sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 is required for amino acid catabolism during carbohydrate starvation and embryo development in Arabidopsis.

Krüßel L, Junemann J, Wirtz M, Birke H, Thornton JD, Browning LW, Poschet G, Hell R, Balk J, Braun HP, Hildebrandt TM.

Plant Physiol. 2014 May;165(1):92-104. doi: 10.1104/pp.114.239764. Epub 2014 Apr 1.

8.

ETHE1 mutations are specific to ethylmalonic encephalopathy.

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.

J Med Genet. 2006 Apr;43(4):340-6. Epub 2005 Sep 23.

9.

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.

Hildebrandt TM, Di Meo I, Zeviani M, Viscomi C, Braun HP.

Biosci Rep. 2013 Jul 25;33(4). pii: e00052. doi: 10.1042/BSR20130051.

10.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27.

PMID:
20978941
11.

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.

Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25.

PMID:
20657580
12.

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.

Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19.

13.

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M.

EMBO Mol Med. 2012 Sep;4(9):1008-14. doi: 10.1002/emmm.201201433. Epub 2012 Aug 20.

14.

Ethylmalonic encephalopathy-report of two cases.

Heberle LC, Al Tawari AA, Ramadan DG, Ibrahim JK.

Brain Dev. 2006 Jun;28(5):329-31. Epub 2006 Jan 10.

PMID:
16376514
15.

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.

J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271.

PMID:
18593870
16.

Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.

Pettinati I, Brem J, McDonough MA, Schofield CJ.

Hum Mol Genet. 2015 May 1;24(9):2458-69. doi: 10.1093/hmg/ddv007. Epub 2015 Jan 16.

17.

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Dionisi-Vici C, Diodato D, Torre G, Picca S, Pariante R, Giuseppe Picardo S, Di Meo I, Rizzo C, Tiranti V, Zeviani M, De Ville De Goyet J.

Brain. 2016 Apr;139(Pt 4):1045-51. doi: 10.1093/brain/aww013. Epub 2016 Feb 25.

PMID:
26917598
18.

Expression of abiotic stress inducible ETHE1-like protein from rice is higher in roots and is regulated by calcium.

Kaur C, Mustafiz A, Sarkar AK, Ariyadasa TU, Singla-Pareek SL, Sopory SK.

Physiol Plant. 2014 Sep;152(1):1-16. doi: 10.1111/ppl.12147. Epub 2014 Mar 7.

PMID:
24410953
19.

Ethylmalonic encephalopathy: clinical and biochemical observations.

Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N.

Neuropediatrics. 2007 Apr;38(2):78-82.

PMID:
17712735
20.

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

Merinero B, Pérez-Cerdá C, Ruiz Sala P, Ferrer I, García MJ, Martínez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernández E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M.

J Inherit Metab Dis. 2006 Oct;29(5):685. Epub 2006 Aug 12.

PMID:
16906473

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