Viscomi C - Search Results

1

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy.

Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C. Dogan SA, et al. Among authors: viscomi c. Cell Metab. 2018 Nov 6;28(5):764-775.e5. doi: 10.1016/j.cmet.2018.07.012. Epub 2018 Aug 16. Cell Metab. 2018. PMID: 30122554 Free PMC article.

2

Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.

Legati A, Ghezzi D, Viscomi C. Legati A, et al. Among authors: viscomi c. Methods Mol Biol. 2023;2615:381-395. doi: 10.1007/978-1-0716-2922-2_26. Methods Mol Biol. 2023. PMID: 36807805

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

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. Viscomi C, et al. Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25. Nat Med. 2010. PMID: 20657580

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

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. Di Meo I, et al. Among authors: viscomi c. EMBO Mol Med. 2012 Sep;4(9):1008-14. doi: 10.1002/emmm.201201433. Epub 2012 Aug 20. EMBO Mol Med. 2012. PMID: 22903887 Free PMC article.

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