Sfoglia per Autore
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 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.
Expanded phenotype of AARS1-related white matter disease.
2021-01-01 Helman, G; Mendes, Mi; Nicita, F; Darbelli, L; Sherbini, O; Moore, T; Derksen, A; Amy, Pizzino; Carrozzo, R; Torraco, A; Catteruccia, M; Aiello, C; Goffrini, P; Figuccia, S; Smith, Dec; Hadzsiev, K; Hahn, A; Biskup, S; Brösse, I; Kotzaeridou, U; Gauck, D; Grebe, Ta; Elmslie, F; Stals, K; Gupta, R; Bertini, E; Thiffault, I; Taft, Rj; Schiffmann, R; Brandl, U; Haack, Tb; Salomons, Gs; Simons, C; Bernard, G; van der Knaap, Ms; Vanderver, A; Husain, Ra.
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.
Yeast as a model for searching drugs against pathologies caused by mutations in ACO2
2023-01-01 Gilea, ALEXANDRU IONUT; Figuccia, Sonia; CECCATELLI BERTI, Camilla; Fiorini, Claudio; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico
Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress
2023-01-01 CECCATELLI BERTI, Camilla; Gihaz, Shalev; Figuccia, Sonia; Choi, Jae-Yeon; Pal Anasuya, C.; Goffrini, Paola; Ben Mamoun, Choukri
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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. | |
| Expanded phenotype of AARS1-related white matter disease. | 1-gen-2021 | Helman, G; Mendes, Mi; Nicita, F; Darbelli, L; Sherbini, O; Moore, T; Derksen, A; Amy, Pizzino; Carrozzo, R; Torraco, A; Catteruccia, M; Aiello, C; Goffrini, P; Figuccia, S; Smith, Dec; Hadzsiev, K; Hahn, A; Biskup, S; Brösse, I; Kotzaeridou, U; Gauck, D; Grebe, Ta; Elmslie, F; Stals, K; Gupta, R; Bertini, E; Thiffault, I; Taft, Rj; Schiffmann, R; Brandl, U; Haack, Tb; Salomons, Gs; Simons, C; Bernard, G; van der Knaap, Ms; Vanderver, A; Husain, Ra. | |
| 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. | |
| Yeast as a model for searching drugs against pathologies caused by mutations in ACO2 | 1-gen-2023 | Gilea, ALEXANDRU IONUT; Figuccia, Sonia; CECCATELLI BERTI, Camilla; Fiorini, Claudio; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico | |
| Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress | 1-gen-2023 | CECCATELLI BERTI, Camilla; Gihaz, Shalev; Figuccia, Sonia; Choi, Jae-Yeon; Pal Anasuya, C.; Goffrini, Paola; Ben Mamoun, Choukri |
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