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153 results

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Page 1
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.
MtDNA-maintenance defects: syndromes and genes.
Viscomi C, Zeviani M. Viscomi C, et al. J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324239 Free PMC article. Review.
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.
Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, Minczuk M. Gammage PA, et al. Among authors: viscomi c. Nat Med. 2018 Nov;24(11):1691-1695. doi: 10.1038/s41591-018-0165-9. Epub 2018 Sep 24. Nat Med. 2018. PMID: 30250142 Free PMC article.
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Silva-Pinheiro P, et al. Among authors: viscomi c. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282. Nucleic Acids Res. 2021. PMID: 33956154 Free PMC article.
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Silva-Pinheiro P, et al. Among authors: viscomi c. Nucleic Acids Res. 2021 Oct 11;49(18):10803. doi: 10.1093/nar/gkab837. Nucleic Acids Res. 2021. PMID: 34520541 Free PMC article. No abstract available.
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N. Brañas Casas R, et al. Among authors: viscomi c. Cell Death Dis. 2024 Apr 20;15(4):281. doi: 10.1038/s41419-024-06622-9. Cell Death Dis. 2024. PMID: 38643274 Free PMC article.
153 results