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Alternative translation initiation augments the human mitochondrial proteome.
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M, Holt IJ. Kazak L, et al. Among authors: reyes a. Nucleic Acids Res. 2013 Feb 1;41(4):2354-69. doi: 10.1093/nar/gks1347. Epub 2012 Dec 28. Nucleic Acids Res. 2013. PMID: 23275553 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: reyes a. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282. Nucleic Acids Res. 2021. PMID: 33956154 Free PMC article.
MPV17L2 is required for ribosome assembly in mitochondria.
Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A. Dalla Rosa I, et al. Among authors: reyes a. Nucleic Acids Res. 2014 Jul;42(13):8500-15. doi: 10.1093/nar/gku513. Epub 2014 Jun 19. Nucleic Acids Res. 2014. PMID: 24948607 Free PMC article.
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D. Catania A, et al. Among authors: reyes a. J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12. J Hum Genet. 2018. PMID: 29531337 Free PMC article.
Human mitochondrial DNA replication.
Holt IJ, Reyes A. Holt IJ, et al. Among authors: reyes a. Cold Spring Harb Perspect Biol. 2012 Dec 1;4(12):a012971. doi: 10.1101/cshperspect.a012971. Cold Spring Harb Perspect Biol. 2012. PMID: 23143808 Free PMC article. Review.
1,879 results