Fernandez-Vizarra E - Search Results

1

Neural stem cells traffic functional mitochondria via extracellular vesicles.

Peruzzotti-Jametti L, Bernstock JD, Willis CM, Manferrari G, Rogall R, Fernandez-Vizarra E, Williamson JC, Braga A, van den Bosch A, Leonardi T, Krzak G, Kittel Á, Benincá C, Vicario N, Tan S, Bastos C, Bicci I, Iraci N, Smith JA, Peacock B, Muller KH, Lehner PJ, Buzas EI, Faria N, Zeviani M, Frezza C, Brisson A, Matheson NJ, Viscomi C, Pluchino S. Peruzzotti-Jametti L, et al. PLoS Biol. 2021 Apr 7;19(4):e3001166. doi: 10.1371/journal.pbio.3001166. eCollection 2021 Apr. PLoS Biol. 2021. PMID: 33826607 Free PMC article.

2

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. Fernandez-Vizarra E, et al. J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056637 Free PMC article.

3

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

Fernández-Vizarra E, Tiranti V, Zeviani M. Fernández-Vizarra E, et al. Biochim Biophys Acta. 2009 Jan;1793(1):200-11. doi: 10.1016/j.bbamcr.2008.05.028. Epub 2008 Jun 21. Biochim Biophys Acta. 2009. PMID: 18620006 Free article. Review.

4

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. Ghezzi D, et al. Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771761 Free PMC article.

5

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. Viscomi C, et al. Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24. Hum Mol Genet. 2009. PMID: 18818194 Free PMC article.

6

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. Mineri R, et al. PLoS One. 2009 May 28;4(5):e5713. doi: 10.1371/journal.pone.0005713. PLoS One. 2009. PMID: 19492094 Free PMC article.

7

Isolation of mitochondria for biogenetical studies: An update.

Fernández-Vizarra E, Ferrín G, Pérez-Martos A, Fernández-Silva P, Zeviani M, Enríquez JA. Fernández-Vizarra E, et al. Mitochondrion. 2010 Apr;10(3):253-62. doi: 10.1016/j.mito.2009.12.148. Epub 2009 Dec 23. Mitochondrion. 2010. PMID: 20034597

8

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. Fernandez-Vizarra E, et al. BMJ Case Rep. 2009;2009:bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9. BMJ Case Rep. 2009. PMID: 21686963 Free PMC article.

9

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. Arzuffi P, et al. Neuromuscul Disord. 2012 Jan;22(1):50-5. doi: 10.1016/j.nmd.2011.07.009. Epub 2012 Jan 9. Neuromuscul Disord. 2012. PMID: 22227277 Free PMC article.

10

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

Fernández-Vizarra E, Zeviani M. Fernández-Vizarra E, et al. Front Genet. 2015 Apr 9;6:134. doi: 10.3389/fgene.2015.00134. eCollection 2015. Front Genet. 2015. PMID: 25914718 Free PMC article. Review.

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