CECCATELLI BERTI, Camilla
CECCATELLI BERTI, Camilla
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
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 novel enhancing effect of SARS-CoV-2 mutations on anti-viral CD8 T cell responses
2023-01-01 Tiezzi, Camilla; Vecchi, Andrea; Rossi, Marzia; Cavazzini, Davide; Bolchi, Angelo; Laccabue, Diletta; Penna, Amalia; Meschi, Tiziana; Ticinesi, Andrea; Nouvenne, Antonio; Donofrio, Gaetano; Fisicaro, Paola; Montali, Ilaria; CECCATELLI BERTI, Camilla; Reverberi, Valentina; Montali, Anna; Doselli, Sara; Pedrazzi, Giuseppe; Missale, Gabriele; Ottonello, Simone; Ferrari, Carlo; Boni, Carolina
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 yeast model for PKAN and CoPAN neurodegeration
2018-01-01 CECCATELLI BERTI, Camilla; Goffrini, Paola
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.
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.
Deregulated intracellular pathways define novel molecular targets for HBV-specific CD8 T cell reconstitution in chronic hepatitis B
2023-01-01 Montali, Ilaria; Ceccatelli Berti, Camilla; Morselli, Marco; Acerbi, Greta; Barili, Valeria; Pedrazzi, Giuseppe; Montanini, Barbara; Boni, Carolina; Alfieri, Arianna; Pesci, Marco; Loglio, Alessandro; Degasperi, Elisabetta; Borghi, Marta; Perbellini, Riccardo; Penna, Amalia; Laccabue, Diletta; Rossi, Marzia; Vecchi, Andrea; Tiezzi, Camilla; Reverberi, Valentina; Boarini, Chiara; Abbati, Gianluca; Massari, Marco; Lampertico, Pietro; Missale, Gabriele; Ferrari, Carlo; Fisicaro, Paola
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
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
FluoroSpot assay to analyze SARS-CoV-2-specific T cell responses
2023-01-01 Tiezzi, C.; Rossi, M.; Vecchi, A.; Doselli, S.; Penna, A.; Fisicaro, P.; Montali, I.; Ceccatelli Berti, C.; Reverberi, V.; Montali, A.; Missale, G.; Ferrari, C.; Boni, C.
FUNCTIONAL AND TRANSCRIPTIONAL RESTORATION OF EXHAUSTED VIRUS-SPECIFIC T LYMPHOCYTES FROM PATIENTS WITH CHRONIC HEPATITIS B
2023-01-01 CECCATELLI BERTI, Camilla; Montali, Ilaria; Morselli, Marco; Boni, Carolina; Penna, Amalia; Laccabue, Diletta; Vecchi, Andrea; Rossi, Marzia; Tiezzi, Camilla; Reverberi, Valentina; Montali, Anna; Doselli, Sara; Schivazappa, Simona; Boarini, Chiara; Abbati, Gianluca; Missale, Gabriele; Ferrari, Carlo; Fisicaro, Paola
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae
2024-01-01 Aneli, S; Ceccatelli Berti, C; Gilea, Ai; Birolo, G; Mutti, G; Pavesi, A; Baruffini, E; Goffrini, P; Capelli, C
HBcrAg values may predict virological and immunological responses to pegIFN-α in NUC-suppressed HBeAg-negative chronic hepatitis B
2024-01-01 Vecchi, A.; Rossi, M.; Tiezzi, C.; Fisicaro, P.; Doselli, S.; Gabor, E. A.; Penna, A.; Montali, I.; Ceccatelli Berti, C.; Reverberi, V.; Montali, A.; Fletcher, S. P.; Degasperi, E.; Sambarino, D.; Laccabue, D.; Facchetti, F.; Schivazappa, S.; Loggi, E.; Coco, B.; Cavallone, D.; Rosselli Del Turco, E.; Massari, M.; Pedrazzi, G.; Missale, G.; Verucchi, G.; Andreone, P.; Brunetto, M. R.; Lampertico, P.; Ferrari, C.; Boni, C.
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases
2024-01-01 Figuccia, Sonia; Izzo, Rossella; Legati, Andrea; Nasca, Alessia; Goffrini, Paola; Ghezzi, Daniele; CECCATELLI BERTI, Camilla
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 human coasy mutations in yeast Saccharomyces cerevisiae
2014-01-01 CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola
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
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
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
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 novel enhancing effect of SARS-CoV-2 mutations on anti-viral CD8 T cell responses | 1-gen-2023 | Tiezzi, Camilla; Vecchi, Andrea; Rossi, Marzia; Cavazzini, Davide; Bolchi, Angelo; Laccabue, Diletta; Penna, Amalia; Meschi, Tiziana; Ticinesi, Andrea; Nouvenne, Antonio; Donofrio, Gaetano; Fisicaro, Paola; Montali, Ilaria; CECCATELLI BERTI, Camilla; Reverberi, Valentina; Montali, Anna; Doselli, Sara; Pedrazzi, Giuseppe; Missale, Gabriele; Ottonello, Simone; Ferrari, Carlo; Boni, Carolina | |
| 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 yeast model for PKAN and CoPAN neurodegeration | 1-gen-2018 | CECCATELLI BERTI, Camilla; Goffrini, Paola | |
| 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. | |
| 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. | |
| Deregulated intracellular pathways define novel molecular targets for HBV-specific CD8 T cell reconstitution in chronic hepatitis B | 1-gen-2023 | Montali, Ilaria; Ceccatelli Berti, Camilla; Morselli, Marco; Acerbi, Greta; Barili, Valeria; Pedrazzi, Giuseppe; Montanini, Barbara; Boni, Carolina; Alfieri, Arianna; Pesci, Marco; Loglio, Alessandro; Degasperi, Elisabetta; Borghi, Marta; Perbellini, Riccardo; Penna, Amalia; Laccabue, Diletta; Rossi, Marzia; Vecchi, Andrea; Tiezzi, Camilla; Reverberi, Valentina; Boarini, Chiara; Abbati, Gianluca; Massari, Marco; Lampertico, Pietro; Missale, Gabriele; Ferrari, Carlo; Fisicaro, Paola | |
| 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 | |
| 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 | |
| FluoroSpot assay to analyze SARS-CoV-2-specific T cell responses | 1-gen-2023 | Tiezzi, C.; Rossi, M.; Vecchi, A.; Doselli, S.; Penna, A.; Fisicaro, P.; Montali, I.; Ceccatelli Berti, C.; Reverberi, V.; Montali, A.; Missale, G.; Ferrari, C.; Boni, C. | |
| FUNCTIONAL AND TRANSCRIPTIONAL RESTORATION OF EXHAUSTED VIRUS-SPECIFIC T LYMPHOCYTES FROM PATIENTS WITH CHRONIC HEPATITIS B | 1-gen-2023 | CECCATELLI BERTI, Camilla; Montali, Ilaria; Morselli, Marco; Boni, Carolina; Penna, Amalia; Laccabue, Diletta; Vecchi, Andrea; Rossi, Marzia; Tiezzi, Camilla; Reverberi, Valentina; Montali, Anna; Doselli, Sara; Schivazappa, Simona; Boarini, Chiara; Abbati, Gianluca; Missale, Gabriele; Ferrari, Carlo; Fisicaro, Paola | |
| Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae | 1-gen-2024 | Aneli, S; Ceccatelli Berti, C; Gilea, Ai; Birolo, G; Mutti, G; Pavesi, A; Baruffini, E; Goffrini, P; Capelli, C | |
| HBcrAg values may predict virological and immunological responses to pegIFN-α in NUC-suppressed HBeAg-negative chronic hepatitis B | 1-gen-2024 | Vecchi, A.; Rossi, M.; Tiezzi, C.; Fisicaro, P.; Doselli, S.; Gabor, E. A.; Penna, A.; Montali, I.; Ceccatelli Berti, C.; Reverberi, V.; Montali, A.; Fletcher, S. P.; Degasperi, E.; Sambarino, D.; Laccabue, D.; Facchetti, F.; Schivazappa, S.; Loggi, E.; Coco, B.; Cavallone, D.; Rosselli Del Turco, E.; Massari, M.; Pedrazzi, G.; Missale, G.; Verucchi, G.; Andreone, P.; Brunetto, M. R.; Lampertico, P.; Ferrari, C.; Boni, C. | |
| Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases | 1-gen-2024 | Figuccia, Sonia; Izzo, Rossella; Legati, Andrea; Nasca, Alessia; Goffrini, Paola; Ghezzi, Daniele; CECCATELLI BERTI, Camilla | |
| 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 human coasy mutations in yeast Saccharomyces cerevisiae | 1-gen-2014 | CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola | |
| 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 | |
| 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 | |
| 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 | |
| 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. |