GOFFRINI, Paola
GOFFRINI, Paola
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
"A Kluyveromyces lactis gene homologous to AAC2 complements the Saccharomyces cerevisiae op1 mutation"
1995-01-01 Viola, Am; Galeotti, C.; Goffrini, Paola; Ficarelli, A.; FERRERO FORTUNATI, Iliana
"Miglioramento genetico di Kluyveromyces lactis per la produzione di proteine eterologhe
2002-01-01 Neglia, B.; Goffrini, Paola; Donnini, Claudia; C., Compagnano; F., LA STARZA; F., Farina; C., Palleschi
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
2017-01-01 Andrea, Legati; Aurelio, Reyes; CECCATELLI BERTI, Camilla; Oliver, Stehling; Silvia, Marchet; Costanza, Lamperti; Ferrari, Alberto; Robinson, Alan J.; Ulrich, Mühlenhoff; Roland, Lill; Massimo, Zeviani; Goffrini, Paola; Daniele, Ghezzi
A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeast Kluyveromyces lactis.
1991-01-01 Goffrini, Paola; WESOLOWSKI LOUVEL, M; FERRERO FORTUNATI, Iliana
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
2015-01-01 Alston, Charlotte L; CECCATELLI BERTI, Camilla; Blakely, Emma L; Oláhová, Monika; He, Langping; Mcmahon, Colin J; Olpin, Simon E; Hargreaves, Iain P; Nolli, Cecilia; Mcfarland, Robert; Goffrini, Paola; O'Sullivan, Maureen J; Taylor, Robert W.
A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis
2007-01-01 Goffrini, Paola
A yeast model for PKAN and CoPAN neurodegeration
2018-01-01 CECCATELLI BERTI, Camilla; Goffrini, Paola
Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca2+-ATPase
2004-01-01 Francesca, Farina; Daniela, Uccelletti; Goffrini, Paola; RONALD A., Butow; Claudia, Abeijon; Claudio, Palleschi
Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: Cell lipid composition, membrane integrity, viability and fermentative activity
2008-01-01 Ilaria, Mannazzu; Daniele, Angelozzi; Simona, Belviso; Marilena, Budroni; GIOVANNI ANTONIO, Farris; Goffrini, Paola; Lodi, Tiziana; Mario, Marzona; Laura, Bardi
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
Carbon catabolite repression in Kluyveromyces lactis: isolation and characterization of the KlDLD gene encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase.
1994-01-01 Lodi, Tiziana; Oconnor, D; Goffrini, Paola; FERRERO FORTUNATI, Iliana
Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
2021-01-01 Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
2019-01-01 Sharkia, R; Wierenga, Kj; Kessel, A; Azem, A; Bertini, E; Carrozzo, R; Torraco, A; Goffrini, P; Ceccatelli Berti, C; Mccormick, Me; Plecko, B; Klein, A; Abela, L; Hengel, H; Schöls, L; Shalev, S; Khayat, M; Mahajnah, M; Spiegel, R.
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
Cloning and characterization of the lactate-specific inducible gene KlCYB2, encoding the cytochrome b2 of Kluyveromyces lactis
2000-01-01 Alberti, A.; Goffrini, Paola; FERRERO FORTUNATI, Iliana; Lodi, Tiziana
Comparative Functional Genomics of glucose repression in laboratory and wine yeasts
2007-01-01 Marchi, E; Lodi, Tiziana; Goffrini, Paola; Rizzetto, L; De Filippo, C; Cavalieri, D.
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
2018-01-01 Del Dotto, Valentina; Fogazza, Mario; Musiani, Francesco; Maresca, Alessandra; Aleo, Serena J.; Caporali, Leonardo; La Morgia, Chiara; Nolli, Cecilia; Lodi, Tiziana; Goffrini, Paola; Chan, David; Carelli, Valerio; Rugolo, Michela; Baruffini, Enrico; Zanna, Claudia
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
2016-01-01 Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D’Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per M.; Zeviani, Massimo; Bindoff, Laurence A.
DNA polymerase [gamma] and disease: what we have learned from yeast
2015-01-01 Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "A Kluyveromyces lactis gene homologous to AAC2 complements the Saccharomyces cerevisiae op1 mutation" | 1-gen-1995 | Viola, Am; Galeotti, C.; Goffrini, Paola; Ficarelli, A.; FERRERO FORTUNATI, Iliana | |
| "Miglioramento genetico di Kluyveromyces lactis per la produzione di proteine eterologhe | 1-gen-2002 | Neglia, B.; Goffrini, Paola; Donnini, Claudia; C., Compagnano; F., LA STARZA; F., Farina; C., Palleschi | |
| A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. | 1-gen-2017 | Andrea, Legati; Aurelio, Reyes; CECCATELLI BERTI, Camilla; Oliver, Stehling; Silvia, Marchet; Costanza, Lamperti; Ferrari, Alberto; Robinson, Alan J.; Ulrich, Mühlenhoff; Roland, Lill; Massimo, Zeviani; Goffrini, Paola; Daniele, Ghezzi | |
| A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeast Kluyveromyces lactis. | 1-gen-1991 | Goffrini, Paola; WESOLOWSKI LOUVEL, M; FERRERO FORTUNATI, Iliana | |
| A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency | 1-gen-2015 | Alston, Charlotte L; CECCATELLI BERTI, Camilla; Blakely, Emma L; Oláhová, Monika; He, Langping; Mcmahon, Colin J; Olpin, Simon E; Hargreaves, Iain P; Nolli, Cecilia; Mcfarland, Robert; Goffrini, Paola; O'Sullivan, Maureen J; Taylor, Robert W. | |
| A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis | 1-gen-2007 | Goffrini, Paola | |
| A yeast model for PKAN and CoPAN neurodegeration | 1-gen-2018 | CECCATELLI BERTI, Camilla; Goffrini, Paola | |
| Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca2+-ATPase | 1-gen-2004 | Francesca, Farina; Daniela, Uccelletti; Goffrini, Paola; RONALD A., Butow; Claudia, Abeijon; Claudio, Palleschi | |
| Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: Cell lipid composition, membrane integrity, viability and fermentative activity | 1-gen-2008 | Ilaria, Mannazzu; Daniele, Angelozzi; Simona, Belviso; Marilena, Budroni; GIOVANNI ANTONIO, Farris; Goffrini, Paola; Lodi, Tiziana; Mario, Marzona; Laura, Bardi | |
| 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 | |
| Carbon catabolite repression in Kluyveromyces lactis: isolation and characterization of the KlDLD gene encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase. | 1-gen-1994 | Lodi, Tiziana; Oconnor, D; Goffrini, Paola; FERRERO FORTUNATI, Iliana | |
| Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations | 1-gen-2021 | Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S. | |
| Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome | 1-gen-2019 | Sharkia, R; Wierenga, Kj; Kessel, A; Azem, A; Bertini, E; Carrozzo, R; Torraco, A; Goffrini, P; Ceccatelli Berti, C; Mccormick, Me; Plecko, B; Klein, A; Abela, L; Hengel, H; Schöls, L; Shalev, S; Khayat, M; Mahajnah, M; Spiegel, R. | |
| 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 | |
| Cloning and characterization of the lactate-specific inducible gene KlCYB2, encoding the cytochrome b2 of Kluyveromyces lactis | 1-gen-2000 | Alberti, A.; Goffrini, Paola; FERRERO FORTUNATI, Iliana; Lodi, Tiziana | |
| Comparative Functional Genomics of glucose repression in laboratory and wine yeasts | 1-gen-2007 | Marchi, E; Lodi, Tiziana; Goffrini, Paola; Rizzetto, L; De Filippo, C; Cavalieri, D. | |
| Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models | 1-gen-2018 | Del Dotto, Valentina; Fogazza, Mario; Musiani, Francesco; Maresca, Alessandra; Aleo, Serena J.; Caporali, Leonardo; La Morgia, Chiara; Nolli, Cecilia; Lodi, Tiziana; Goffrini, Paola; Chan, David; Carelli, Valerio; Rugolo, Michela; Baruffini, Enrico; Zanna, Claudia | |
| Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration | 1-gen-2016 | Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D’Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per M.; Zeviani, Massimo; Bindoff, Laurence A. | |
| DNA polymerase [gamma] and disease: what we have learned from yeast | 1-gen-2015 | Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico |