CECCATELLI BERTI, Camilla

CECCATELLI BERTI, Camilla  

Dipartimento di Medicina e Chirurgia  

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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.
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
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
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
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.
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
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
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
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.
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 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
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.
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
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 yeast model for PKAN and CoPAN neurodegeration 1-gen-2018 CECCATELLI BERTI, Camilla; Goffrini, Paola