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Items: 39

1.

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.

Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E, Zeviani M.

EMBO Mol Med. 2019 Jan;11(1). pii: e9582. doi: 10.15252/emmm.201809582.

2.

Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes.

Signes A, Fernandez-Vizarra E.

Essays Biochem. 2018 Jul 20;62(3):255-270. doi: 10.1042/EBC20170098. Print 2018 Jul 20. Review.

3.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, Cerutti R, Di Meo I, Johnson M, Bottani E, Crociara P, Corona C, Grifoni S, Tiranti V, Fernandez-Vizarra E, Robinson AJ, Viscomi C, Casalone C, Zeviani M, Galli C.

Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2131-2142. doi: 10.1016/j.bbadis.2018.03.021. Epub 2018 Mar 28.

4.

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Sharma S, Singh P, Fernandez-Vizarra E, Zeviani M, Van der Knaap MS, Saran RK.

J Child Neurol. 2018 May;33(6):428-431. doi: 10.1177/0883073818760875. Epub 2018 Mar 26.

PMID:
29577824
5.

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.

Flønes IH, Fernandez-Vizarra E, Lykouri M, Brakedal B, Skeie GO, Miletic H, Lilleng PK, Alves G, Tysnes OB, Haugarvoll K, Dölle C, Zeviani M, Tzoulis C.

Acta Neuropathol. 2018 Mar;135(3):409-425. doi: 10.1007/s00401-017-1794-7. Epub 2017 Dec 21.

PMID:
29270838
6.

Mitochondrial complex III Rieske Fe-S protein processing and assembly.

Fernandez-Vizarra E, Zeviani M.

Cell Cycle. 2018;17(6):681-687. doi: 10.1080/15384101.2017.1417707. Epub 2018 Apr 10.

PMID:
29243944
7.

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Bottani E, Cerutti R, Harbour ME, Ravaglia S, Dogan SA, Giordano C, Fearnley IM, D'Amati G, Viscomi C, Fernandez-Vizarra E, Zeviani M.

Mol Cell. 2017 Jul 6;67(1):96-105.e4. doi: 10.1016/j.molcel.2017.06.001. Epub 2017 Jun 29.

8.

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.

Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M.

Cell Rep. 2017 Feb 14;18(7):1727-1738. doi: 10.1016/j.celrep.2017.01.044.

9.

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R.

Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26.

10.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E.

Mol Genet Metab. 2016 Nov;119(3):214-222. doi: 10.1016/j.ymgme.2016.09.001. Epub 2016 Sep 3.

PMID:
27623250
11.

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M.

J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28.

12.

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

Pérez-Pérez R, Lobo-Jarne T, Milenkovic D, Mourier A, Bratic A, García-Bartolomé A, Fernández-Vizarra E, Cadenas S, Delmiro A, García-Consuegra I, Arenas J, Martín MA, Larsson NG, Ugalde C.

Cell Rep. 2016 Aug 30;16(9):2387-98. doi: 10.1016/j.celrep.2016.07.081. Epub 2016 Aug 18.

13.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA.

EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894.

14.

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Fernández-Vizarra E, Zeviani M.

Front Genet. 2015 Apr 9;6:134. doi: 10.3389/fgene.2015.00134. eCollection 2015. Review.

15.

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K.

Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.

16.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.

Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.

17.

Supercomplex assembly determines electron flux in the mitochondrial electron transport chain.

Lapuente-Brun E, Moreno-Loshuertos R, Acín-Pérez R, Latorre-Pellicer A, Colás C, Balsa E, Perales-Clemente E, Quirós PM, Calvo E, Rodríguez-Hernández MA, Navas P, Cruz R, Carracedo Á, López-Otín C, Pérez-Martos A, Fernández-Silva P, Fernández-Vizarra E, Enríquez JA.

Science. 2013 Jun 28;340(6140):1567-70. doi: 10.1126/science.1230381.

PMID:
23812712
18.

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.

Sánchez E, Lobo T, Fox JL, Zeviani M, Winge DR, Fernández-Vizarra E.

Biochim Biophys Acta. 2013 Mar;1827(3):285-93. doi: 10.1016/j.bbabio.2012.11.003. Epub 2012 Nov 17.

19.

Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice.

Quirós PM, Ramsay AJ, Sala D, Fernández-Vizarra E, Rodríguez F, Peinado JR, Fernández-García MS, Vega JA, Enríquez JA, Zorzano A, López-Otín C.

EMBO J. 2012 May 2;31(9):2117-33. doi: 10.1038/emboj.2012.70. Epub 2012 Mar 20.

20.

Proteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver amelioration.

Ramírez-Torres A, Barceló-Batllori S, Fernández-Vizarra E, Navarro MA, Arnal C, Guillén N, Acín S, Osada J.

J Proteomics. 2012 May 17;75(9):2563-75. doi: 10.1016/j.jprot.2012.02.025. Epub 2012 Mar 3.

PMID:
22402057
21.

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.

Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L, Zeviani M.

Neuromuscul Disord. 2012 Jan;22(1):50-5. doi: 10.1016/j.nmd.2011.07.009. Epub 2012 Jan 9.

22.

Tissue-specific differences in mitochondrial activity and biogenesis.

Fernández-Vizarra E, Enríquez JA, Pérez-Martos A, Montoya J, Fernández-Silva P.

Mitochondrion. 2011 Jan;11(1):207-13. doi: 10.1016/j.mito.2010.09.011. Epub 2010 Oct 7.

PMID:
20933104
23.

Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly.

Perales-Clemente E, Fernández-Vizarra E, Acín-Pérez R, Movilla N, Bayona-Bafaluy MP, Moreno-Loshuertos R, Pérez-Martos A, Fernández-Silva P, Enríquez JA.

Mol Cell Biol. 2010 Jun;30(12):3038-47. doi: 10.1128/MCB.00025-10. Epub 2010 Apr 12.

24.

Isolation of mitochondria for biogenetical studies: An update.

Fernández-Vizarra E, Ferrín G, Pérez-Martos A, Fernández-Silva P, Zeviani M, Enríquez JA.

Mitochondrion. 2010 Apr;10(3):253-62. doi: 10.1016/j.mito.2009.12.148. Epub 2009 Dec 23.

PMID:
20034597
25.

How do human cells react to the absence of mitochondrial DNA?

Mineri R, Pavelka N, Fernandez-Vizarra E, Ricciardi-Castagnoli P, Zeviani M, Tiranti V.

PLoS One. 2009 May 28;4(5):e5713. doi: 10.1371/journal.pone.0005713.

26.

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

BMJ Case Rep. 2009;2009. pii: bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9.

27.

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M.

Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24.

28.

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M.

Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.

29.

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

Fernández-Vizarra E, Tiranti V, Zeviani M.

Biochim Biophys Acta. 2009 Jan;1793(1):200-11. doi: 10.1016/j.bbamcr.2008.05.028. Epub 2008 Jun 21. Review.

30.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M.

Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.

31.

Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones.

Fernández-Vizarra E, Enriquez JA, Pérez-Martos A, Montoya J, Fernández-Silva P.

Curr Genet. 2008 Jul;54(1):13-22. doi: 10.1007/s00294-008-0194-x. Epub 2008 May 15.

PMID:
18481068
32.

In vivo and in organello analyses of mitochondrial translation.

Fernández-Silva P, Acín-Pérez R, Fernández-Vizarra E, Pérez-Martos A, Enriquez JA.

Methods Cell Biol. 2007;80:571-88. Review. No abstract available.

PMID:
17445714
33.

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PMID:
17403714
34.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M.

Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.

35.

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

J Med Genet. 2007 Mar;44(3):173-80. Epub 2006 Oct 20.

36.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.

Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.

PMID:
16582910
37.

In vitro transcription termination activity of the Drosophila mitochondrial DNA-binding protein DmTTF.

Roberti M, Fernandez-Silva P, Polosa PL, Fernandez-Vizarra E, Bruni F, Deceglie S, Montoya J, Gadaleta MN, Cantatore P.

Biochem Biophys Res Commun. 2005 May 27;331(1):357-62.

PMID:
15845400
38.

Redox activation of mitochondrial intermembrane space Cu,Zn-superoxide dismutase.

Iñarrea P, Moini H, Rettori D, Han D, Martínez J, García I, Fernández-Vizarra E, Iturralde M, Cadenas E.

Biochem J. 2005 Apr 1;387(Pt 1):203-9.

39.

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells.

Fernández-Vizarra E, López-Pérez MJ, Enriquez JA.

Methods. 2002 Apr;26(4):292-7.

PMID:
12054919

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