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The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'Amati G. Perli E, et al. Among authors: zeviani m. EMBO Mol Med. 2014 Feb;6(2):169-82. doi: 10.1002/emmm.201303198. Epub 2014 Jan 10. EMBO Mol Med. 2014. PMID: 24413190 Free PMC article.
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: zeviani m. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. Diodato D, et al. Among authors: zeviani m. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24. Hum Mutat. 2014. PMID: 24827421 Free PMC article.
Infantile mitochondrial encephalopathy.
Uziel G, Ghezzi D, Zeviani M. Uziel G, et al. Among authors: zeviani m. Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26. Semin Fetal Neonatal Med. 2011. PMID: 21620787 Review.
469 results