Viscomi C - Search Results

1

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

2

Gene therapy for mitochondrial disorders.

Keshavan N, Minczuk M, Viscomi C, Rahman S. Keshavan N, et al. Among authors: viscomi c. J Inherit Metab Dis. 2024 Jan;47(1):145-175. doi: 10.1002/jimd.12699. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171948 Review.

3

Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSIT.

Nicol T, Falcone S, Blease A, Vikhe P, Civiletto G, Omairi SS, Viscomi C, Patel K, Potter PK. Nicol T, et al. Among authors: viscomi c. Cardiovasc Res. 2023 Oct 16;119(12):2213-2229. doi: 10.1093/cvr/cvad101. Cardiovasc Res. 2023. PMID: 37395010 Free PMC article.

4

NAD⁺ repletion with niacin counteracts cancer cachexia.

Beltrà M, Pöllänen N, Fornelli C, Tonttila K, Hsu MY, Zampieri S, Moletta L, Corrà S, Porporato PE, Kivelä R, Viscomi C, Sandri M, Hulmi JJ, Sartori R, Pirinen E, Penna F. Beltrà M, et al. Among authors: viscomi c. Nat Commun. 2023 Apr 3;14(1):1849. doi: 10.1038/s41467-023-37595-6. Nat Commun. 2023. PMID: 37012289 Free PMC article.

5

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

6

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.

7

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.

8

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M, Bindoff LA. Tzoulis C, et al. Among authors: viscomi c. Brain. 2010 May;133(Pt 5):1428-37. doi: 10.1093/brain/awq067. Epub 2010 Apr 16. Brain. 2010. PMID: 20400524

9

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

10

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

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