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Prof.ssa Iliana Ferrero Fortunati


Tel: (39) 0521 905600 Email: iferrero@unipr.it
Fax: (39) 0521 905604    

Corsi di insegnamento:

"Stragenie genetiche nell'organismo modello lievito" nell'ambito del Corso di Laurea Magistrale in Biologia Molecolare; "Strategie di fisiogenetica microbica per le biotecnologie" nell'ambito del Corso di Laurea in Biotecnologie; "Comunicare la Scienza" nell'ambito del Corso di Laurea Magistrale in Biologia Molecolare


Yeast as a model system for mitochondrial diseases. Understanding the biology of complex systems is facilitated by comparing them with simpler organisms. Budding yeasts provide ideal model system for eukaryotic cell biology; yeast genetics offer unique tools for discovering gene function and defining genetic networks starting from a single mutant. Hundred of nuclear genes are involved in biogenesis and in maintenance of the mitochondrial DNA in the yeast Saccharomyces cerevisiae; most of them possess a human orthologue. All these reasons have contributed to make S. cerevisiae a particularly suitable organism for the study of mitochondrial disorders. The main objective of our research is to use S. cerevisiae as a model to investigate the molecular bases underlying the pathogenic mechanisms of human mitochondrial diseases.

Pubblicazioni selezionate:

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. [URL]

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. (2015) Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med. 2015 Dec 23;8(3):176-90. doi: 10.15252/emmm.201505894. [URL]

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. (2015) TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.  Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. [URL]

Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J.W., Melchionda, L., Blakely, E.L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H.P., Burlina, A., Kopajtich, R., Walther, A., Strom, T.M., Haack, T.B., Prokisch, H., Taylor, R.W., Ferrero, I., Zeviani, M., Ghezzi, D. (2014). MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat 34 1501-9. [URL]

Boczonadi, V., Muller, J.S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., Cinnamon, Y., Lutzkendorf, S., Piko, H., Reza, M., Florez, L., Santibanez-Koref, M., Griffin, H., Schuelke, M., Elpeleg, O., Kalaydjieva, L., Lochmuller, H., Elliott, D.J., Chinnery, P.F., Edvardson, S., Horvath, R. (2014). EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun 5 4287. [URL]

Dallabona, C., Diodato, D., Kevelam, S.H., Haack, T.B., Wong, L.J., Salomons, G.S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T.M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E.M., Abbink, T.E., Wolf, N.I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D., van der Knaap, M.S. (2014). Novel (ovario) leukodystrophy related to AARS2 mutations.Neurology . [URL]

Yarham, J.W., Lamichhane, T.N., Pyle, A., Mattijssen, S., Baruffini, E., Bruni, F., Donnini, C., Vassilev, A., He, L., Blakely, E.L., Griffin, H., Santibanez-Koref, M., Bindoff, L.A., Ferrero, I., Chinnery, P.F., McFarland, R., Maraia, R.J., Taylor, R.W. (2014). Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS Genet 10 e1004424. [URL]

Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J.W., Melchionda, L., Blakely, E.L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H.P., Burlina, A., Kopajtich, R., Walther, A., Strom, T.M., Haack, T.B., Prokisch, H., Taylor, R.W., Ferrero, I., Zeviani, M., Ghezzi, D. (2013). MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.Hum Mutat 34 1501-9. [URL]

Haack, T.B., Kopajtich, R., Freisinger, P., Wieland, T., Rorbach, J., Nicholls, T.J., Baruffini, E., Walther, A., Danhauser, K., Zimmermann, F.A., Husain, R.A., Schum, J., Mundy, H., Ferrero, I., Strom, T.M., Meitinger, T., Taylor, R.W., Minczuk, M., Mayr, J.A., Prokisch, H. (2013). ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. Am J Hum Genet . [URL]

Indrieri, A., Conte, I., Chesi, G., Romano, A., Quartararo, J., Tatè, R., Ghezzi, D., Zeviani, M., Goffrini, P., Ferrero, I., Bovolenta, P., Franco, B. (2013). The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med 5 280-93. [URL]

Panizza, E., Ercolino, T., Mori, L., Rapizzi, E., Castellano, M., Opocher, G., Ferrero, I., Neumann, H.P., Mannelli, M., Goffrini, P. (2013). Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Hum Mol Genet 22 804-15. [URL]

Alston, C.L., Davison, J.E., Meloni, F., van der Westhuizen, F.H., He, L., Hornig-Do, H.T., Peet, A.C., Gissen, P., Goffrini, P., Ferrero, I., Wassmer, E., McFarland, R., Taylor, R.W. (2012). Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 49 569-77. [URL]

Baruffini, E., Serafini, F., Ferrero, I. and Lodi, T. (2012). Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast. PLS One 7e34322. [URL]

Ghezzi, D., Baruffini, E., Haack, T.B., Invernizzi, F., Melchionda, L., Dallabona, C., Strom, T.M., Parini, R., Burlina, A.B., Meitinger, T., Prokisch, H., Ferrero, I., Zeviani, M. (2012). Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis. Am J Hum Genet 90 1079-87. [URL]

Rizzetto, L., Zanni, E., Uccelletti, D., Ferrero, I., Goffrini, P. (2012). Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60. J Aging Res 2012 Epub 2012 May 17. [URL]

Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T. (2011). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.Mitochondrion. 11 182-190.

Baruffini E, Ferrero I, Foury F. (2010). In vivo analysis of mtDNA replication defects in yeast. Methods. 51 426-436.

Baruffini, E., Horvath, R., Dallabona, C., Czermin, B., Lamantea, E., Bindoff, L., Invernizzi, F., Ferrero, I., Zeviani, M., Lodi, T. (2010). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion . [URL]

Dallabona, C., Marsano, R.M., Arzuffi, P., Ghezzi, D., Mancini, P., Zeviani, M., Ferrero, I., Donnini, C. (2010). Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet 19 1098-107. [URL]

Rinaldi, T., Dallabona, C., Ferrero, I., Frontali, L., Bolotin-Fukuhara, M. (2010). Mitochondrial diseases and the role of the yeast models. FEMS Yeast Res 10 1006-22. [URL]

Stewart, J.D., Horvath, R., Baruffini, E., Ferrero, I., Bulst, S., Watkins, P.B., Fontana, R.J., Day, C.P., Chinnery, P.F. (2010). Polymerase gamma Gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology52 1791-6. [URL]

Tuppen, H.A., Fehmi, J., Czermin, B., Goffrini, P., Meloni, F., Ferrero, I., He, L., Blakely, E.L., McFarland, R., Horvath, R., Turnbull, D.M., Taylor, R.W. (2010). Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 100 345-8. [URL]

Degola, F., Berni, E., Spotti, E., Ferrero, I., Restivo, F.M. (2009). Facing the problem of "false positives": re-assessment and improvement of a multiplex RT-PCR procedure for the diagnosis of A. flavus mycotoxin producers.Int J Food Microbiol 129 300-5. [URL]

Di Fonzo, A., Ronchi, D., Lodi, T., Fassone, E., Tigano, M., Lamperti, C., Corti, S., Bordoni, A., Fortunato, F., Nizzardo, M., Napoli, L., Donadoni, C., Salani, S., Saladino, F., Moggio, M., Bresolin, N., Ferrero, I., Comi, G.P. (2009). The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet 84 594-604. [URL]

Ghezzi, D., Goffrini, P., Uziel, G., Horvath, R., Klopstock, T., Lochmüller, H., D'Adamo, P., Gasparini, P., Strom, T.M., Prokisch, H., Invernizzi, F., Ferrero, I., Zeviani, M. (2009, May 24). SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nature Genetics [Epub ahead of print]. [URL]

Goffrini, P., Ercolino, T., Panizza, E., Giachè, V., Cavone, L., Chiarugi, A., Dima, V., Ferrero, I., Mannelli, M. (2009). Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. Hum Mol Genet 18 1860-8. [URL]

Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., Dirocco, M., Giordano, I., Meznaric-Petrusa, M., Baruffini, E., Ferrero, I., Zeviani, M. (2009). Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32 143-58. [URL]

Bao, W.G., Guiard, B., Fang, Z.A., Donnini, C., Gervais, M., Passos, F.M., Ferrero, I., Fukuhara, H., Bolotin-Fukuhara, M. (2008). Oxygen-dependent transcriptional regulator Hap1p limits glucose uptake by repressing the expression of the major glucose transporter gene RAG1 in Kluyveromyces lactis. Eukaryot Cell 7 1895-905. [URL]

Galassi, G., Lamantea, E., Invernizzi, F., Tavani, F., Pisano, I., Ferrero, I., Palmieri, L., Zeviani, M. (2008). Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 18 465-70. [URL]

Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I., Mereghetti, P., D'Adamo, P., Gasparini, P., Zeviani, M. (2008). Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82 1281-9. [URL]

Barberio, C., Bianchi, L., Pinzauti, F., Lodi, T., Ferrero, I., Polsinelli, M., Casalone, E. (2007). Induction and characterization of morphologic mutants in a natural Saccharomyces cerevisiae strain. Can J Microbiol 53 223-230. [URL]

Baruffini, E., Ferrero, I., Foury, F. (2007). Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochim Biophys Acta 1772 1225-35. [URL]

Degola, F., Berni, E., Dall'asta, C., Spotti, E., Marchelli, R., Ferrero, I., Restivo, F.M. (2007). A multiplex RT-PCR approach to detect aflatoxigenic strains of Aspergillus flavus. J Appl Microbiol 103 409-17. [URL]

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M. (2007). Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 16 1241-1252.

Valente, L., Tiranti, V., Marsano, R.M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C., Mereghetti, P., De Gioia, L., Burlina, A., Castellan, C., Comi, G.P., Savasta, S., Ferrero, I., Zeviani, M. (2007). Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80 44-58. [URL]

Baruffini, E., Lodi, T., Dallabona, C., Puglisi, A., Zeviani, M., Ferrero, I. (2006). Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15 2846-55. [URL]

Fontanesi, F., Viola, A.M., Ferrero, I. (2006). Heterologous complementation of the Klaac null mutation of Kluyveromyces lactis by the Saccharomyces cerevisiae AAC3 gene encoding the ADP/ATP carrier. FEMS Yeast Res6 414-20. [URL]

Lodi, T., Bove, C., Fontanesi, F., Viola, A.M., Ferrero, I. (2006). Mutation D104G in ANT1 gene: Complementation study in Saccharomyces cerevisiae as a model system. Biochem Biophys Res Commun 341 810-5. [URL]

Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R.M., Donnini, C., Weiher, H., Strisciuglio, P., Parini, R., Sarzi, E., Chan, A., DiMauro, S., Rötig, A., Gasparini, P., Ferrero, I., Mootha, V.K., Tiranti, V., Zeviani, M. (2006). MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38 570-5. [URL]

Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. (2005). Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14 3079-88. [URL]

Fontanesi, F., Palmieri, L., Scarcia, P., Lodi, T., Donnini, C., Limongelli, A., Tiranti, V., Zeviani, M., Ferrero, I., Viola, A.M. (2004). Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet 13923-34. [URL]

Lodi, T., Fontanesi, F., Ferrero, I., Donnini, C. (2004). Carboxylic acids permeases in yeast: two genes in Kluyveromyces lactis. Gene 339 111-9. [URL]

Alberti, A., Ferrero, I., Lodi, T. (2003). LYS2 gene and its mutation in Kluyveromyces lactis. Yeast 20 1171-5. [URL]

Alberti, A., Lodi, T., Ferrero, I., Donnini, C. (2003). MIG1-dependent and MIG1-independent regulation of GAL gene expression in Saccharomyces cerevisiae: role of Imp2p. Yeast 20 1085-96. [URL]

Goffrini, P., Ferrero, I., Donnini, C. (2002). Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters. J Bacteriol 184 427-32. [URL]

Betina, S., Goffrini, P., Ferrero, I., Wésolowski-Louvel, M. (2001). RAG4 gene encodes a glucose sensor in Kluyveromyces lactis. Genetics 158 541-8. [URL]

Lodi, T., Alberti, A., Guiard, B., Ferrero, I. (2000). Regulation of the Saccharomyces cerevisiae DLD1 gene encoding the mitochondrial protein D-lactate ferricytochrome c oxidoreductase by HAP1 and HAP2/3/4/5. Mol Gen Genet 262 623-32. [URL]

Viola, A.M., Lodi, T., Ferrero, I. (1999). A Klaac null mutant of Kluyveromyces lactis is complemented by a single copy of the Saccharomyces cerevisiae AAC1 gene. Curr Genet 36 29-36. [URL]

Lodi, T., Goffrini, P., Bolondi, I., Ferrero, I. (1998). Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations. Curr Genet 34 12-20. [URL]

Weirich, J., Goffrini, P., Kuger, P., Ferrero, I., Breunig, K.D. (1997). Influence of mutations in hexose-transporter genes on glucose repression in Kluyveromyces lactis. Eur J Biochem 249 248-57. [URL]

Goffrini, P., Ficarelli, A., Donnini, C., Lodi, T., Puglisi, P.P., Ferrero, I. (1996). FOG1 and FOG2 genes, required for the transcriptional activation of glucose-repressible genes of Kluyveromyces lactis, are homologous to GAL83 and SNF1 of saccharomyces cerevisiae. Curr Genet 29 316-26. [URL]

Lodi, T., Goffrini, P., Ferrero, I., Donnini, C. (1995). IMP2, a gene involved in the expression of glucose-repressible genes in Saccharomyces cerevisiae. Microbiology 141 ( Pt 9) 2201-9. [URL]

Viola, A.M., Galeotti, C.L., Goffrini, P., Ficarelli, A., Ferrero, I. (1995). A kluyveromyces lactis gene homologue to AAC2 complements the Saccaromyces cerevisiae op1 mutation. Curr Genet 27 229-33. [URL]

Luani, D., Lodi, T., Ferrero, I. (1994). Genes coding for mitochondrial proteins are more strongly biased in Kluyveromyces lactis than in Saccharomyces cerevisiae. Curr Genet 26 91-3. [URL]

Donnini, C., Lodi, T., Ferrero, I., Algeri, A., Puglisi, P.P. (1992). Allelism of IMP1 and GAL2 genes of Saccharomyces cerevisiae. J Bacteriol 174 3411-5. [URL]

Donnini, C., Lodi, T., Ferrero, I., Puglisi, P.P. (1992). IMP2, a nuclear gene controlling the mitochondrial dependence of galactose, maltose and raffinose utilization in Saccharomyces cerevisiae. Yeast 8 83-93. [URL]

Wésolowski-Louvel, M., Goffrini, P., Ferrero, I., Fukuhara, H. (1992). Glucose transport in the yeast Kluyveromyces lactis. I. Properties of an inducible low-affinity glucose transporter gene. Mol Gen Genet 233 89-96. [URL]

Goffrini, P., Wésolowski-Louvel, M., Ferrero, I. (1991). A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeast Kluyveromyces lactis. Mol Gen Genet 228 401-9. [URL]

Lodi, T., Donnini, C., Ferrero, I. (1991). Catabolite repression by galactose in overexpressed GAL4 strains of Saccharomyces cerevisiae. J Gen Microbiol 137 ( Pt 5) 1039-44. [URL]

Goffrini, P., Wesolowski-Louvel, M., Ferrero, I., Fukuhara, H. (1990). RAG1 gene of the yeast Kluyveromyces lactis codes for a sugar transporter. Nucleic Acids Res 18 5294. [URL]

Wésolowski-Louvel, M., Goffrini, P., Ferrero, I. (1988). The RAG2 gene of the yeast Kluyveromyces lactis codes for a putative phosphoglucose isomerase. Nucleic Acids Res 16 8714. [URL]

Ferrero, I., Viola, A.M., Goffeau, A. (1981). Induction by glucose of an antimycin-insensitive, azide-sensitive respiration in the yeast Kluyveromyces lactis. Antonie Van Leeuwenhoek 47 11-24. [URL]

Ferrero, I., Rossi, C., Landini, M.P., Puglisi, P.P. (1978). Role of the mitochondrial protein synthesis is the catabolite repression of the petite-negative yeast K.lactis. Biochem Biophys Res Commun 80 340-8. [URL]

Pubblicato Venerdì, 21 Febbraio, 2014 - 09:52 | ultima modifica Martedì, 31 Gennaio, 2017 - 16:05