DEGIORGI, ANDREA
DEGIORGI, ANDREA
Dipartimento di Medicina e Chirurgia
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.
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease
2020-01-01 Hoyos-Gonzalez, N.; Trasvina-Arenas, C. H.; Degiorgi, A.; Castro-Lara, A. Y.; Peralta-Castro, A.; Jimenez-Sandoval, P.; Diaz-Quezada, C.; Lodi, T.; Baruffini, E.; Brieba, L. G.
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
2021-01-01 Beninca, C.; Zanette, V.; Brischigliaro, M.; Johnson, M.; Reyes, A.; Valle, D. A. D.; J. Robinson, A.; Degiorgi, A.; Yeates, A.; Telles, B. A.; Prudent, J.; Baruffini, E.; S. F. Santos M., L.; R. De Souza R., L.; Fernandez-Vizarra, E.; J. Whitworth, A.; Zeviani, M.
Recessive MECR pathogenic variants cause a LHON-like optic neuropathy
2023-01-01 Fiorini, Claudio; Degiorgi, Andrea; Lucia Cascavilla, Maria; Valentina Tropeano, Concetta; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
2023-01-01 Fiorini, Claudio; Degiorgi, Andrea; Cascavilla, Maria Lucia; Tropeano, Concetta Valentina; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo
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
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies
2019-01-01 Degiorgi, Andrea; Tagliavini, Francesca; Palombo, Flavia; La Morgia, Chiara; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico
Studies on Saccharomyces cerevisiae demonstrate association between mutation in MECR gene and Hereditary Optic Neuropathies (HON)
2020-01-01 Degiorgi, Andrea; Tagliavini, Francesca; Palombo, Flavia; La Morgia, Chiara; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico
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
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases
2019-01-01 Baruffini, Enrico; Pitayu-Nugroho, Laras; Facchinello, Nicola; Giroux, Xavier; Beffagna, Giorgia; Degiorgi, Andrea; Donnini, Claudia; Argenton, Francesco; Delahodde, Agnès; Tiso, Natascia; Lodi, Tiziana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease | 1-gen-2020 | Hoyos-Gonzalez, N.; Trasvina-Arenas, C. H.; Degiorgi, A.; Castro-Lara, A. Y.; Peralta-Castro, A.; Jimenez-Sandoval, P.; Diaz-Quezada, C.; Lodi, T.; Baruffini, E.; Brieba, L. G. | |
| Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features | 1-gen-2021 | Beninca, C.; Zanette, V.; Brischigliaro, M.; Johnson, M.; Reyes, A.; Valle, D. A. D.; J. Robinson, A.; Degiorgi, A.; Yeates, A.; Telles, B. A.; Prudent, J.; Baruffini, E.; S. F. Santos M., L.; R. De Souza R., L.; Fernandez-Vizarra, E.; J. Whitworth, A.; Zeviani, M. | |
| Recessive MECR pathogenic variants cause a LHON-like optic neuropathy | 1-gen-2023 | Fiorini, Claudio; Degiorgi, Andrea; Lucia Cascavilla, Maria; Valentina Tropeano, Concetta; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo | |
| Recessive MECR pathogenic variants cause an LHON-like optic neuropathy | 1-gen-2023 | Fiorini, Claudio; Degiorgi, Andrea; Cascavilla, Maria Lucia; Tropeano, Concetta Valentina; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo | |
| 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 | |
| Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies | 1-gen-2019 | Degiorgi, Andrea; Tagliavini, Francesca; Palombo, Flavia; La Morgia, Chiara; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico | |
| Studies on Saccharomyces cerevisiae demonstrate association between mutation in MECR gene and Hereditary Optic Neuropathies (HON) | 1-gen-2020 | Degiorgi, Andrea; Tagliavini, Francesca; Palombo, Flavia; La Morgia, Chiara; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico | |
| 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 | |
| Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases | 1-gen-2019 | Baruffini, Enrico; Pitayu-Nugroho, Laras; Facchinello, Nicola; Giroux, Xavier; Beffagna, Giorgia; Degiorgi, Andrea; Donnini, Claudia; Argenton, Francesco; Delahodde, Agnès; Tiso, Natascia; Lodi, Tiziana |