Chin HL, Goh DL, Wang FS, Tay SKH, Heng CK, Donnini C, Baruffini E, Pines O. (2019) A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. Journal of molecular medicine (Berlin, Germany) 97(11) 1557-1566 [DOI PMID]
Trasvina-Arenas CH, Hoyos-Gonzalez N, Castro-Lara AY, Rodriguez-Hernandez A, Sanchez-Sandoval ME, Jimenez-Sandoval P, Ayala-Garcia VM, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG. (2019) Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites. Mitochondrion 49 166-177 [DOI PMID]
Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. (2019) Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. Human mutation 40(5) 601-618 [DOI PMID]
Brevetto: Delahodde, Agnès, NUGROHO PITAYU, Laras, Baruffini, Enrico, Lodi, Tiziana, Rötig, Agnès, Procaccio, Vincent (2019) bCOMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES. https://air.unipr.it/handle/11381/2863043
Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C. (2018) Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models. Biochimica et biophysica acta. Molecular basis of disease 1864(10) 3496-3514 [DOI PMID]
Gilberti M, Baruffini E, Donnini C, Dallabona C. (2018) 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. PloS one 13(10) e0205014 [DOI PMID]
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. (2018) Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy. Journal of medical genetics 55(9) 599-606 [DOI PMID]
Dallabona C, Baruffini E, Goffrini P, Lodi T. (2017) Dominance of yeast aac2(R96H) and aac2(R252G) mutations, equivalent to pathological mutations in ant1, is due to gain of function. Biochemical and biophysical research communications 493(2) 909-913 [DOI PMID]
Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C. (2017) OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions. Cell reports 19(12) 2557-2571 [DOI PMID]
Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D. (2016) Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Human mutation 37(9) 898-903 [DOI PMID]
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. (2016) Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration. EMBO molecular medicine 8(3) 176-90 [DOI PMID]
Pitayu L, Baruffini E, Rodier C, Rotig A, Lodi T, Delahodde A. (2016) Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases. Human molecular genetics 25(4) 715-27 [DOI PMID]
Nolli C, Goffrini P, Lazzaretti M, Zanna C, Vitale R, Lodi T, Baruffini E. (2015) Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy. Mitochondrion 25 38-48 [DOI PMID]
Rivero D, Berna L, Stefanini I, Baruffini E, Bergerat A, Csikasz-Nagy A, De Filippo C, Cavalieri D. (2015) Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains. Environmental microbiology 17(8) 3069-81 [DOI PMID]
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM. (2015) Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island. American journal of human genetics 96(5) 826-31 [DOI PMID]
Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E. (2015) DNA polymerase gamma and disease: what we have learned from yeast. Frontiers in genetics 6 106 [DOI PMID]
Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T. (2015) Polymorphisms in DNA polymerase gamma affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae. Mitochondrion 20 52-63 [DOI PMID]
Marchi L, Polverini E, Degola F, Baruffini E, Restivo FM. (2014) Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes. Plant physiology and biochemistry : PPB 83 225-31 [DOI PMID]
Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. (2014) Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS genetics 10(6) e1004424 [DOI PMID]
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. (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Human mutation 35(8) 983-9 [DOI PMID]
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82(23) 2063-71 [DOI PMID]
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. (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Human mutation 34(11) 1501-9 [DOI PMID]
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. American journal of human genetics 93(2) 211-23 [DOI PMID]
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. American journal of human genetics 90(6) 1079-87 [DOI PMID]
Baruffini E, Serafini F, Ferrero I, Lodi T. (2012) Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. PloS one 7(3) e34322 [DOI PMID]
Serafini F, Bottacini F, Viappiani A, Baruffini E, Turroni F, Foroni E, Lodi T, van Sinderen D, Ventura M. (2011) Insights into physiological and genetic mupirocin susceptibility in bifidobacteria. Applied and environmental microbiology 77(9) 3141-6 [DOI PMID]
Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology (Baltimore, Md.) 52(5) 1791-6 [DOI PMID]
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(1) 182-90 [DOI PMID]
Baruffini E, Ferrero I, Foury F. (2010) In vivo analysis of mtDNA replication defects in yeast. Methods (San Diego, Calif.) 51(4) 426-36 [DOI PMID]
Baruffini E, Lodi T. (2010) Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. Mitochondrion 10(2) 183-7 [DOI PMID]
Stricker S, Pruss H, Horvath R, Baruffini E, Lodi T, Siebert E, Endres M, Zschenderlein R, Meisel A. (2009) A variable neurodegenerative phenotype with polymerase gamma mutation. Journal of neurology, neurosurgery, and psychiatry 80(10) 1181-2 [DOI PMID]
Baruffini E, Serafini F, Lodi T. (2009) Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains. Journal of biotechnology 143(4) 247-54 [DOI PMID]
Fukasawa T, Sakurai H, Nogi Y, Baruffini E. (2009) Galactose transporters discriminate steric anomers at the cell surface in yeast. FEMS yeast research 9(5) 723-31 [DOI PMID]
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. Journal of inherited metabolic disease 32(2) 143-58 [DOI PMID]
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. Biochimica et biophysica acta 1772(11-12) 1225-35 [DOI PMID]
Baruffini E, Lodi T, Dallabona C, Foury F. (2007) A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability. Genetics 177(2) 1227-31 [DOI PMID]
Baruffini E, Goffrini P, Donnini C, Lodi T. (2006) Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1. FEMS yeast research 6(8) 1235-42 [DOI PMID]
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. Human molecular genetics 15(19) 2846-55 [DOI PMID]
Segretario del corso di laurea di Biologia
Membro della Commissione Didattica del corso di laurea di Biologia
Segretario del Comitato d'area 05