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Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M, Baruffini E, Donnini C, Dallabona C. Gilberti M, et al. Among authors: donnini c. PLoS One. 2018 Oct 1;13(10):e0205014. doi: 10.1371/journal.pone.0205014. eCollection 2018. PLoS One. 2018. PMID: 30273399 Free PMC article.
Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions.
Tigano M, Ruotolo R, Dallabona C, Fontanesi F, Barrientos A, Donnini C, Ottonello S. Tigano M, et al. Nucleic Acids Res. 2015 Sep 30;43(17):8368-80. doi: 10.1093/nar/gkv765. Epub 2015 Aug 3. Nucleic Acids Res. 2015. PMID: 26240381 Free PMC article.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. Baruffini E, et al. Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23929671 Free PMC article.
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.
Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T. Baruffini E, et al. Mitochondrion. 2015 Jan;20:52-63. doi: 10.1016/j.mito.2014.11.003. Epub 2014 Nov 18. Mitochondrion. 2015. PMID: 25462018 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. 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.
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
Dallabona C, Marsano RM, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I, Donnini C. Dallabona C, et al. Hum Mol Genet. 2010 Mar 15;19(6):1098-107. doi: 10.1093/hmg/ddp581. Epub 2009 Dec 30. Hum Mol Genet. 2010. PMID: 20042463
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1.
Baruffini E, Goffrini P, Donnini C, Lodi T. Baruffini E, et al. FEMS Yeast Res. 2006 Dec;6(8):1235-42. doi: 10.1111/j.1567-1364.2006.00107.x. FEMS Yeast Res. 2006. PMID: 17156020
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Fontanesi F, et al. Hum Mol Genet. 2004 May 1;13(9):923-34. doi: 10.1093/hmg/ddh108. Epub 2004 Mar 11. Hum Mol Genet. 2004. PMID: 15016764
We demonstrate here that expression of the equivalent mutations in aac2-defective haploid strains of Saccharomyces cerevisiae results in (a) a marked growth defect on non-fermentable carbon sources, and (b) a concurrent reduction of the amount of mitochondrial cytochromes, cytoch …
We demonstrate here that expression of the equivalent mutations in aac2-defective haploid strains of Saccharomyces cerevisiae results in (a) …
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