BARUFFINI, Enrico
BARUFFINI, Enrico
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism
2013-01-01 Baruffini, Enrico; Buschini, Annamaria; Ruotolo, Roberta; Ottonello, Simone; Pelosi, Giorgio; Bisceglie, Franco; Lodi, Tiziana
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism
2012-01-01 Baruffini, Enrico; Buschini, Annamaria; Ruotolo, Roberta; A., La Torre; Pelosi, Giorgio; Bisceglie, Franco; Lodi, Tiziana
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension
2019-01-01 Chin, H. -L.; Goh, D. L. -M.; Wang, F. S.; Tay, S. K. H.; Heng, C. K.; Donnini, C.; Baruffini, E.; Pines, O.
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability
2007-01-01 Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; Foury, F.
A variable neurodegenerative phenotype with polymerase gamma mutation
2009-01-01 Stricker, S; Prüss, H; Horvath, R; Baruffini, Enrico; Lodi, Tiziana; Siebert, E; Endres, M; Zschenderlein, R; Meisel, A.
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
2021-01-01 Di Punzio, G.; Gilberti, M.; Baruffini, E.; Lodi, T.; Donnini, C.; Dallabona, C.
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes
2021-01-01 DI PUNZIO, Giulia; Gilberti, Micol; Magistrati, Martina; Leotta, Antonella; Gilea, ALEXANDRU IONUT; Baruffini, Enrico; Lodi, Tiziana; Donnini, Claudia; Dallabona, Cristina
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites
2019-01-01 Trasvina-Arenas, C. H.; Hoyos-Gonzalez, N.; Castro-Lara, A. Y.; Rodriguez-Hernandez, A.; Sanchez-Sandoval, M. E.; Jimenez-Sandoval, P.; Ayala-Garcia, V. M.; Diaz-Quezada, C.; Lodi, T.; Baruffini, E.; Brieba, L. G.
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
2021-01-01 Cappuccio, G.; Ceccatelli Berti, C.; Baruffini, E.; Sullivan, J.; Shashi, V.; Jewett, T.; Stamper, T.; Maitz, S.; Canonico, F.; Revah-Politi, A.; Kupchik, G. S.; Anyane-Yeboa, K.; Aggarwal, V.; Benneche, A.; Bratland, E.; Berland, S.; D'Arco, F.; Alves, C. A.; Vanderver, A.; Longo, D.; Bertini, E.; Torella, A.; Nigro, V.; D'Amico, A.; van der Knaap, M. S.; Goffrini, P.; Brunetti-Pierri, N.
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
2016-01-01 Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island
2015-01-01 Hadchouel, Alice; Wieland, Thomas; Griese, Matthias; Baruffini, Enrico; Lorenz Depiereux, Bettina; Enaud, Laurent; Graf, Elisabeth; Dubus, Jean christophe; Halioui Louhaichi, Sonia; Coulomb, Aurore; Delacourt, Christophe; Eckstein, Gertrud; Zarbock, Ralf; Schwarzmayr, Thomas; Cartault, François; Meitinger, Thomas; Lodi, Tiziana; De blic, Jacques; Strom, Tim m
Clinical and molecular features of mitochondrial DNA depletion syndromes.
2009-01-01 Spinazzola, A; Invernizzi, F; Carrara, F; Lamantea, E; Donati, A; Dirocco, M; Giordano, I; MEZNARIC PETRUSA, M; Baruffini, Enrico; FERRERO FORTUNATI, Iliana; Zeviani, M.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy
2019-01-01 Verrigni, Daniela; Di Nottia, Michela; Ardissone, Anna; Baruffini, Enrico; Nasca, Alessia; Legati, Andrea; Bellacchio, Emanuele; Fagiolari, Gigliola; Martinelli, Diego; Fusco, Lucia; Battaglia, Domenica; Trani, Giulia; Versienti, Gianmarco; Marchet, Silvia; Torraco, Alessandra; Rizza, Teresa; Verardo, Margherita; D'Amico, Adele; Diodato, Daria; Moroni, Isabella; Lamperti, Costanza; Petrini, Stefania; Moggio, Maurizio; Goffrini, Paola; Ghezzi, Daniele; Carrozzo, Rosalba; Bertini, Enrico
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
2016-01-01 Pitayu, Laras; Baruffini, Enrico; Rodier, Celine; Rötig, Agnès; Lodi, Tiziana; Delahodde, Agnès
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE
2009-01-01 C. P., Day; J. D., Stewart; R., Horvath; R. J., Fontana; P. B., Watkins; S., Bulst; Baruffini, Enrico; FERRERO FORTUNATI, Iliana; P. F., Chinnery
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES
2019-01-01 Delahodde, Agnès; NUGROHO PITAYU, Laras; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES
2017-01-01 Delahodde, Agnès; Pitayu Nugroho, Laras; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES
2016-01-01 Delahodde, Agnès; Pitayu, LARAS AJENG; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains
2009-01-01 Baruffini, Enrico; Serafini, F; Lodi, Tiziana
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants.
2010-01-01 Baruffini, Enrico; Lodi, Tiziana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism | 1-gen-2013 | Baruffini, Enrico; Buschini, Annamaria; Ruotolo, Roberta; Ottonello, Simone; Pelosi, Giorgio; Bisceglie, Franco; Lodi, Tiziana | |
| A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism | 1-gen-2012 | Baruffini, Enrico; Buschini, Annamaria; Ruotolo, Roberta; A., La Torre; Pelosi, Giorgio; Bisceglie, Franco; Lodi, Tiziana | |
| A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension | 1-gen-2019 | Chin, H. -L.; Goh, D. L. -M.; Wang, F. S.; Tay, S. K. H.; Heng, C. K.; Donnini, C.; Baruffini, E.; Pines, O. | |
| A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability | 1-gen-2007 | Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; Foury, F. | |
| A variable neurodegenerative phenotype with polymerase gamma mutation | 1-gen-2009 | Stricker, S; Prüss, H; Horvath, R; Baruffini, Enrico; Lodi, Tiziana; Siebert, E; Endres, M; Zschenderlein, R; Meisel, A. | |
| 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 | 1-gen-2021 | Di Punzio, G.; Gilberti, M.; Baruffini, E.; Lodi, T.; Donnini, C.; Dallabona, C. | |
| A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes | 1-gen-2021 | DI PUNZIO, Giulia; Gilberti, Micol; Magistrati, Martina; Leotta, Antonella; Gilea, ALEXANDRU IONUT; Baruffini, Enrico; Lodi, Tiziana; Donnini, Claudia; Dallabona, Cristina | |
| Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites | 1-gen-2019 | Trasvina-Arenas, C. H.; Hoyos-Gonzalez, N.; Castro-Lara, A. Y.; Rodriguez-Hernandez, A.; Sanchez-Sandoval, M. E.; Jimenez-Sandoval, P.; Ayala-Garcia, V. M.; Diaz-Quezada, C.; Lodi, T.; Baruffini, E.; Brieba, L. G. | |
| Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease | 1-gen-2021 | Cappuccio, G.; Ceccatelli Berti, C.; Baruffini, E.; Sullivan, J.; Shashi, V.; Jewett, T.; Stamper, T.; Maitz, S.; Canonico, F.; Revah-Politi, A.; Kupchik, G. S.; Anyane-Yeboa, K.; Aggarwal, V.; Benneche, A.; Bratland, E.; Berland, S.; D'Arco, F.; Alves, C. A.; Vanderver, A.; Longo, D.; Bertini, E.; Torella, A.; Nigro, V.; D'Amico, A.; van der Knaap, M. S.; Goffrini, P.; Brunetti-Pierri, N. | |
| Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy | 1-gen-2016 | Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele | |
| Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island | 1-gen-2015 | Hadchouel, Alice; Wieland, Thomas; Griese, Matthias; Baruffini, Enrico; Lorenz Depiereux, Bettina; Enaud, Laurent; Graf, Elisabeth; Dubus, Jean christophe; Halioui Louhaichi, Sonia; Coulomb, Aurore; Delacourt, Christophe; Eckstein, Gertrud; Zarbock, Ralf; Schwarzmayr, Thomas; Cartault, François; Meitinger, Thomas; Lodi, Tiziana; De blic, Jacques; Strom, Tim m | |
| Clinical and molecular features of mitochondrial DNA depletion syndromes. | 1-gen-2009 | Spinazzola, A; Invernizzi, F; Carrara, F; Lamantea, E; Donati, A; Dirocco, M; Giordano, I; MEZNARIC PETRUSA, M; Baruffini, Enrico; FERRERO FORTUNATI, Iliana; Zeviani, M. | |
| Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy | 1-gen-2019 | Verrigni, Daniela; Di Nottia, Michela; Ardissone, Anna; Baruffini, Enrico; Nasca, Alessia; Legati, Andrea; Bellacchio, Emanuele; Fagiolari, Gigliola; Martinelli, Diego; Fusco, Lucia; Battaglia, Domenica; Trani, Giulia; Versienti, Gianmarco; Marchet, Silvia; Torraco, Alessandra; Rizza, Teresa; Verardo, Margherita; D'Amico, Adele; Diodato, Daria; Moroni, Isabella; Lamperti, Costanza; Petrini, Stefania; Moggio, Maurizio; Goffrini, Paola; Ghezzi, Daniele; Carrozzo, Rosalba; Bertini, Enrico | |
| 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 | 1-gen-2016 | Pitayu, Laras; Baruffini, Enrico; Rodier, Celine; Rötig, Agnès; Lodi, Tiziana; Delahodde, Agnès | |
| COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE | 1-gen-2009 | C. P., Day; J. D., Stewart; R., Horvath; R. J., Fontana; P. B., Watkins; S., Bulst; Baruffini, Enrico; FERRERO FORTUNATI, Iliana; P. F., Chinnery | |
| COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES | 1-gen-2019 | Delahodde, Agnès; NUGROHO PITAYU, Laras; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent | |
| COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES | 1-gen-2017 | Delahodde, Agnès; Pitayu Nugroho, Laras; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent | |
| COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES | 1-gen-2016 | Delahodde, Agnès; Pitayu, LARAS AJENG; Baruffini, Enrico; Lodi, Tiziana; Rötig, Agnès; Procaccio, Vincent | |
| Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains | 1-gen-2009 | Baruffini, Enrico; Serafini, F; Lodi, Tiziana | |
| Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. | 1-gen-2010 | Baruffini, Enrico; Lodi, Tiziana |