Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99

1.

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
2.

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
3.

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
4.

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
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.

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

PMID:
18593870
6.

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.

7.

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Tiranti V, Zeviani M.

Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. Review.

8.

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
9.

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
10.

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
11.

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
12.

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.

Dweikat I, Naser E, Damsah N, Libdeh BA, Bakri I.

Metab Brain Dis. 2012 Dec;27(4):613-6. doi: 10.1007/s11011-012-9313-y. Epub 2012 May 15.

PMID:
22584649
13.

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.

14.

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V.

Mol Genet Metab. 2006 Dec;89(4):395-7. Epub 2006 Jul 7.

PMID:
16828325
15.

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.

Pavlou E, Augoustides-Savvopoulou P, Gregersen N, Haas D, Gkampeta A, Athanassiadou-Piperopoulou F.

J Child Neurol. 2013 May;28(5):668-71. doi: 10.1177/0883073812449070. Epub 2012 Jul 17.

PMID:
22805253
16.

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.

17.

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.

18.

Acute encephalopathy associated with metronidazole therapy.

Omotoso AB, Opadijo OG.

Afr J Med Med Sci. 1997 Mar-Jun;26(1-2):97-8.

PMID:
10895243
19.

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.

20.

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.

Supplemental Content

Support Center