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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Perli E, et al. Among authors: morea v. Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9. Sci Rep. 2019. PMID: 30911037 Free PMC article.
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Perli E, Giordano C, Tuppen HA, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Perli E, et al. Among authors: morea v. Hum Mol Genet. 2012 Jan 1;21(1):85-100. doi: 10.1093/hmg/ddr440. Epub 2011 Sep 26. Hum Mol Genet. 2012. PMID: 21945886
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: morea v. 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.
Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects.
Perli E, Pisano A, Pignataro MG, Campese AF, Pelullo M, Genovese I, de Turris V, Ghelli AM, Cerbelli B, Giordano C, Colotti G, Morea V, d'Amati G. Perli E, et al. Among authors: morea v. FASEB J. 2020 Jun;34(6):7675-7686. doi: 10.1096/fj.201903270R. Epub 2020 Apr 18. FASEB J. 2020. PMID: 32304340
74 results