Sfoglia per Autore
Modeling human coasy mutations in yeast Saccharomyces cerevisiae
2014-01-01 CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola
Yeast as a model system for diseases associated with defective coenzyme a metabolism
2015-01-01 CECCATELLI BERTI, Camilla; Dallabona, Cristina; Carnevali, Chiara; Pettenati, Elisa; Dusi, Sabrina; Tiranti, Valeria; Goffrini, Paola
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.
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism
2015-01-01 CECCATELLI BERTI, Camilla; Dallabona, Cristina; Lazzaretti, Mirca; Dusi, Sabrina; Tosi, Elena; Tiranti, Valeria; Goffrini, Paola
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7.
2017-01-01 CECCATELLI BERTI, Camilla; Gilberti, Micol; Degiorgi, Andrea; DI PUNZIO, Giulia; Baruffini, Enrico; Dallabona, Cristina
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases.
2017-01-01 Gilberti, Micol; CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Degiorgi, Andrea; Baruffini, Enrico; Dallabona, Cristina
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
The power of yeast in modeling human mutations leading to mitochondrial disease
2018-01-01 CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Pelosi, Federica; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases
2018-01-01 DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
A yeast model for PKAN and CoPAN neurodegeration
2018-01-01 CECCATELLI BERTI, Camilla; Goffrini, Paola
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model
2018-01-01 DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
2019-01-01 Oláhová, M; Ceccatelli Berti, C; Collier, Jj; Alston, Cl; Jameson, E; Jones, Sa; Edwards, N; He, L; Chinnery, Pf; Horvath, R; Goffrini, P; Taylor, Rw; Sayer, Ja.
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.
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms
2020-01-01 CECCATELLI BERTI, Camilla; Cappuccio, Gerarda; Baruffini, Enrico; Figuccia, Sonia; Brunetti-Pierri, Nicola; Goffrini, Paola
Yeast as a model system to propose therapies for Mitochondrial Complex III Deficiency
2020-01-01 Dallabona, Cristina; Mietto, Martina; DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Gilberti, Micol
Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds
2020-01-01 CECCATELLI BERTI, Camilla; Gilea, ALEXANDRU IONUT; Armando De Gregorio, Marco; Goffrini, Paola
Yeast-based screening to discover therapies for Complex III assembly defects.
2021-01-01 Magistrati, Martina; Mietto, Martina; Gilberti, Micol; CECCATELLI BERTI, Camilla; Dallabona, Cristina
Yeast as a model for mitochondrial aminoacyl-tRNA synthetase disorders: validation of mutations in NARS2 and WARS2
2021-01-01 CECCATELLI BERTI, Camilla; Figuccia, Sonia; Legati, Andrea; Nasca, Alessia; Ghezzi, Daniele; Goffrini, Paola
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants
2021-01-01 Figuccia, S.; Degiorgi, A.; Ceccatelli Berti, C.; Baruffini, E.; Dallabona, C.; Goffrini, P.
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases
2021-01-01 Ceccatelli Berti, Camilla; di Punzio, Giulia; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Modeling human coasy mutations in yeast Saccharomyces cerevisiae | 1-gen-2014 | CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola | |
Yeast as a model system for diseases associated with defective coenzyme a metabolism | 1-gen-2015 | CECCATELLI BERTI, Camilla; Dallabona, Cristina; Carnevali, Chiara; Pettenati, Elisa; Dusi, Sabrina; Tiranti, Valeria; Goffrini, Paola | |
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. | |
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism | 1-gen-2015 | CECCATELLI BERTI, Camilla; Dallabona, Cristina; Lazzaretti, Mirca; Dusi, Sabrina; Tosi, Elena; Tiranti, Valeria; Goffrini, Paola | |
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. | 1-gen-2017 | CECCATELLI BERTI, Camilla; Gilberti, Micol; Degiorgi, Andrea; DI PUNZIO, Giulia; Baruffini, Enrico; Dallabona, Cristina | |
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. | 1-gen-2017 | Gilberti, Micol; CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Degiorgi, Andrea; Baruffini, Enrico; Dallabona, Cristina | |
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 | |
The power of yeast in modeling human mutations leading to mitochondrial disease | 1-gen-2018 | CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Pelosi, Federica; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia | |
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases | 1-gen-2018 | DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia | |
A yeast model for PKAN and CoPAN neurodegeration | 1-gen-2018 | CECCATELLI BERTI, Camilla; Goffrini, Paola | |
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model | 1-gen-2018 | DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia | |
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease | 1-gen-2019 | Oláhová, M; Ceccatelli Berti, C; Collier, Jj; Alston, Cl; Jameson, E; Jones, Sa; Edwards, N; He, L; Chinnery, Pf; Horvath, R; Goffrini, P; Taylor, Rw; Sayer, Ja. | |
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. | |
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms | 1-gen-2020 | CECCATELLI BERTI, Camilla; Cappuccio, Gerarda; Baruffini, Enrico; Figuccia, Sonia; Brunetti-Pierri, Nicola; Goffrini, Paola | |
Yeast as a model system to propose therapies for Mitochondrial Complex III Deficiency | 1-gen-2020 | Dallabona, Cristina; Mietto, Martina; DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Gilberti, Micol | |
Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds | 1-gen-2020 | CECCATELLI BERTI, Camilla; Gilea, ALEXANDRU IONUT; Armando De Gregorio, Marco; Goffrini, Paola | |
Yeast-based screening to discover therapies for Complex III assembly defects. | 1-gen-2021 | Magistrati, Martina; Mietto, Martina; Gilberti, Micol; CECCATELLI BERTI, Camilla; Dallabona, Cristina | |
Yeast as a model for mitochondrial aminoacyl-tRNA synthetase disorders: validation of mutations in NARS2 and WARS2 | 1-gen-2021 | CECCATELLI BERTI, Camilla; Figuccia, Sonia; Legati, Andrea; Nasca, Alessia; Ghezzi, Daniele; Goffrini, Paola | |
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants | 1-gen-2021 | Figuccia, S.; Degiorgi, A.; Ceccatelli Berti, C.; Baruffini, E.; Dallabona, C.; Goffrini, P. | |
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases | 1-gen-2021 | Ceccatelli Berti, Camilla; di Punzio, Giulia; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia |
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