Viscomi C - Search Results

1

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. Bottani E, et al. Among authors: viscomi c. Mol Cell. 2017 Jul 6;67(1):96-105.e4. doi: 10.1016/j.molcel.2017.06.001. Epub 2017 Jun 29. Mol Cell. 2017. PMID: 28673544 Free article.

2

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. Spinazzola A, et al. Among authors: viscomi c. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910

3

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.

4

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, Zeviani M. Ghezzi D, et al. Among authors: viscomi c. Hum Mol Genet. 2009 Mar 15;18(6):1058-64. doi: 10.1093/hmg/ddn441. Epub 2009 Jan 5. Hum Mol Genet. 2009. PMID: 19124534 Free article.

5

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. Tiranti V, et al. Among authors: viscomi c. Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Nat Med. 2009. PMID: 19136963

6

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. Di Meo I, et al. Among authors: viscomi c. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25. Antioxid Redox Signal. 2011. PMID: 20812865

7

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.

Stettner GM, Viscomi C, Zeviani M, Wilichowski E, Dutschmann M. Stettner GM, et al. Among authors: viscomi c. Mitochondrion. 2011 May;11(3):413-20. doi: 10.1016/j.mito.2010.12.011. Epub 2010 Dec 16. Mitochondrion. 2011. PMID: 21167962

8

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.

Moreno-Loshuertos R, Ferrín G, Acín-Pérez R, Gallardo ME, Viscomi C, Pérez-Martos A, Zeviani M, Fernández-Silva P, Enríquez JA. Moreno-Loshuertos R, et al. Among authors: viscomi c. PLoS Genet. 2011 Apr;7(4):e1001379. doi: 10.1371/journal.pgen.1001379. Epub 2011 Apr 21. PLoS Genet. 2011. PMID: 21533077 Free PMC article.

9

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.

Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, Schon EA, Lamperti C, Zeviani M. Viscomi C, et al. Cell Metab. 2011 Jul 6;14(1):80-90. doi: 10.1016/j.cmet.2011.04.011. Cell Metab. 2011. PMID: 21723506 Free PMC article.

10

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. Giordano C, et al. Among authors: viscomi c. J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22. J Inherit Metab Dis. 2012. PMID: 22020834

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