Prof. Enrico Baruffini

Ricercatore a tempo determinato



Curriculum vitae

Pubblicazioni selezionate

  1. Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. (2021) Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability. Genes 12(12) [DOI  PMID]
  2. di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. (2021) A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool. International journal of molecular sciences 22(22) [DOI  PMID]
  3. Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V, D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N. (2021) Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Human mutation 42(6) 745-761 [DOI  PMID]
  4. Figuccia S, Degiorgi A, Ceccatelli Berti C, Baruffini E, Dallabona C, Goffrini P. (2021) Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants. International journal of molecular sciences 22(9) [DOI  PMID]
  5. Hytonen MK, Sarviaho R, Jackson CB, Syrja P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. (2021) In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human genetics 140(11) 1593-1609 [DOI  PMID]
  6. Ceccatelli Berti C, di Punzio G, Dallabona C, Baruffini E, Goffrini P, Lodi T, Donnini C. (2021) The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases. Genes 12(2) [DOI  PMID]
  7. Marchi L, Degola F, Baruffini E, Restivo FM. (2021) How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems. Plant science : an international journal of experimental plant biology 304 110714 [DOI  PMID]
  8. Facchinello N, Laquatra C, Locatello L, Beffagna G, Branas Casas R, Fornetto C, Dinarello A, Martorano L, Vettori A, Risato G, Celeghin R, Meneghetti G, Santoro MM, Delahodde A, Vanzi F, Rasola A, Dalla Valle L, Rasotto MB, Lodi T, Baruffini E, Argenton F, Tiso N. (2021) Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish. Cell death & disease 12(1) 100 [DOI  PMID]
  9. Aleo SJ, Del Dotto V, Fogazza M, Maresca A, Lodi T, Goffrini P, Ghelli A, Rugolo M, Carelli V, Baruffini E, Zanna C. (2021) Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations. Human molecular genetics 29(22) 3631-3645 [DOI  PMID]
  10. Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, J Whitworth A, Zeviani M. (2021) Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. Journal of medical genetics 58(3) 155-167 [DOI  PMID]
  11. Hoyos-Gonzalez N, Trasvina-Arenas CH, Degiorgi A, Castro-Lara AY, Peralta-Castro A, Jimenez-Sandoval P, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG. (2020) Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease. Biochimica et biophysica acta. General subjects 1864(7) 129608 [DOI  PMID]
  12. Baruffini E, Ruotolo R, Bisceglie F, Montalbano S, Ottonello S, Pelosi G, Buschini A, Lodi T. (2020) Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study. Scientific reports 10(1) 10524 [DOI  PMID]
  13. 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]
  14. 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]
  15. 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]
  16. Brevetto: Delahodde, Agnès, NUGROHO PITAYU, Laras, Baruffini, Enrico, Lodi, Tiziana, Rötig, Agnès, Procaccio, Vincent (2019) bCOMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES.
  17. 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]
  18. 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]
  19. 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]
  20. 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]
  21. 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]
  22. 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]
  23. 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]
  24. 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]
  25. 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]
  26. 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]
  27. 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]
  28. 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]
  29. 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]
  30. 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]
  31. 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]
  32. 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]
  33. 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]
  34. 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]
  35. 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]
  36. 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]
  37. 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]
  38. 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]
  39. 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]
  40. 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]
  41. 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]
  42. 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]
  43. 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]
  44. 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]
  45. 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]
  46. 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]
  47. 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]
  48. 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]
  49. 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]
  50. 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]

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