MAGISTRATI, MARTINA
MAGISTRATI, MARTINA
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
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
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
2022-01-01 Wongkittichote, Parith; Magistrati, Martina; Shimony, Joshua S; Smyser, Christopher D; Fatemi, Seyed Ali; Fine, Amena S; Bellacchio, Emanuele; Dallabona, Cristina; Shinawi, Marwan
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models
2023-01-01 Magistrati, Martina; Gilea, ALEXANDRU IONUT; CECCATELLI BERTI, Camilla; Baruffini, Enrico; Dallabona, Cristina
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
2022-01-01 Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G; Feichtinger, René G; Achleitner, Melanie T; Lawrence Merritt, J; Pérez, Belén; Ugarte, Magdalena; Grünewald, Stephanie; Riela, Anthony R; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, René; Lund, Allan M; Mayr, Johannes A; Rodriguez-Pombo, Pilar; Van Hove, Johan L K
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability
2021-01-01 Gilea, A. I.; Ceccatelli Berti, C.; Magistrati, M.; Di Punzio, G.; Goffrini, P.; Baruffini, E.; Dallabona, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | 1-gen-2022 | Wongkittichote, Parith; Magistrati, Martina; Shimony, Joshua S; Smyser, Christopher D; Fatemi, Seyed Ali; Fine, Amena S; Bellacchio, Emanuele; Dallabona, Cristina; Shinawi, Marwan | |
| Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models | 1-gen-2023 | Magistrati, Martina; Gilea, ALEXANDRU IONUT; CECCATELLI BERTI, Camilla; Baruffini, Enrico; Dallabona, Cristina | |
| Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency | 1-gen-2022 | Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G; Feichtinger, René G; Achleitner, Melanie T; Lawrence Merritt, J; Pérez, Belén; Ugarte, Magdalena; Grünewald, Stephanie; Riela, Anthony R; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, René; Lund, Allan M; Mayr, Johannes A; Rodriguez-Pombo, Pilar; Van Hove, Johan L K | |
| Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability | 1-gen-2021 | Gilea, A. I.; Ceccatelli Berti, C.; Magistrati, M.; Di Punzio, G.; Goffrini, P.; Baruffini, E.; Dallabona, C. |