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Results: 1 to 20 of 23

1.

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Rahman S.

J Inherit Metab Dis. 2013 Jul;36(4):659-73. doi: 10.1007/s10545-013-9614-2. Epub 2013 May 15. Review.

PMID:
23674168
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23284046
[PubMed - indexed for MEDLINE]
3.

Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.

Kabil O, Banerjee R.

J Biol Chem. 2012 Dec 28;287(53):44561-7. doi: 10.1074/jbc.M112.407411. Epub 2012 Nov 9.

PMID:
23144459
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
22903887
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Detoxification of H(2)S by differentiated colonic epithelial cells: implication of the sulfide oxidizing unit and of the cell respiratory capacity.

Mimoun S, Andriamihaja M, Chaumontet C, Atanasiu C, Benamouzig R, Blouin JM, Tomé D, Bouillaud F, Blachier F.

Antioxid Redox Signal. 2012 Jul 1;17(1):1-10. doi: 10.1089/ars.2011.4186. Epub 2012 Apr 17.

PMID:
22369066
[PubMed - indexed for MEDLINE]
8.

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M.

J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22.

PMID:
22020834
[PubMed - indexed for MEDLINE]
9.

Molecular pathways differentiate hepatitis C virus (HCV) recurrence from acute cellular rejection in HCV liver recipients.

Gehrau R, Maluf D, Archer K, Stravitz R, Suh J, Le N, Mas V.

Mol Med. 2011;17(7-8):824-33. doi: 10.2119/molmed.2011.00072. Epub 2011 Apr 20.

PMID:
21519635
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy.

Palmfeldt J, Vang S, Stenbroen V, Pavlou E, Baycheva M, Buchal G, Monavari AA, Augoustides-Savvopoulou P, Mandel H, Gregersen N.

J Proteome Res. 2011 May 6;10(5):2389-96. doi: 10.1021/pr101218d. Epub 2011 Mar 28.

PMID:
21410200
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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

Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V.

Clin Genet. 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x.

PMID:
20528888
[PubMed - indexed for MEDLINE]
15.

Clinical heterogeneity in ethylmalonic encephalopathy.

Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT.

J Child Neurol. 2009 Aug;24(8):991-6. doi: 10.1177/0883073808331359. Epub 2009 Mar 16.

PMID:
19289697
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Structure of an ETHE1-like protein from Arabidopsis thaliana.

McCoy JG, Bingman CA, Bitto E, Holdorf MM, Makaroff CA, Phillips GN Jr.

Acta Crystallogr D Biol Crystallogr. 2006 Sep;62(Pt 9):964-70. Epub 2006 Aug 19.

PMID:
16929096
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]

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