Ceccatelli Berti C - Search Results

1

Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress.

Ceccatelli Berti C, Gihaz S, Figuccia S, Choi JY, Pal AC, Goffrini P, Ben Mamoun C. Ceccatelli Berti C, et al. Int J Mol Sci. 2022 Dec 27;24(1):435. doi: 10.3390/ijms24010435. Int J Mol Sci. 2022. PMID: 36613877 Free PMC article.

2

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.

Ceccatelli Berti C, Dallabona C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P. Ceccatelli Berti C, et al. Microb Cell. 2015 Apr 6;2(4):126-135. doi: 10.15698/mic2015.04.196. Microb Cell. 2015. PMID: 28357284 Free PMC article.

3

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D. Legati A, et al. Among authors: ceccatelli berti c. J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27. J Med Genet. 2017. PMID: 29079705 Free PMC article.

4

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

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. Sharkia R, et al. Among authors: ceccatelli berti c. J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28. J Inherit Metab Dis. 2019. PMID: 30689204

5

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

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. Oláhová M, et al. Among authors: ceccatelli berti c. Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202. Hum Mol Genet. 2019. PMID: 31435670 Free PMC article.

6

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.

Ceccatelli Berti C, Gilea AI, De Gregorio MA, Goffrini P. Ceccatelli Berti C, et al. Int J Mol Sci. 2020 Dec 30;22(1):293. doi: 10.3390/ijms22010293. Int J Mol Sci. 2020. PMID: 33396642 Free PMC article.

7

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.

Ceccatelli Berti C, di Punzio G, Dallabona C, Baruffini E, Goffrini P, Lodi T, Donnini C. Ceccatelli Berti C, et al. Genes (Basel). 2021 Feb 20;12(2):300. doi: 10.3390/genes12020300. Genes (Basel). 2021. PMID: 33672627 Free PMC article. Review.

8

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

Figuccia S, Degiorgi A, Ceccatelli Berti C, Baruffini E, Dallabona C, Goffrini P. Figuccia S, et al. Among authors: ceccatelli berti c. Int J Mol Sci. 2021 Apr 26;22(9):4524. doi: 10.3390/ijms22094524. Int J Mol Sci. 2021. PMID: 33926074 Free PMC article. Review.

9

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V; Telethon Undiagnosed Diseases Program; D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N. Cappuccio G, et al. Among authors: ceccatelli berti c. Hum Mutat. 2021 Jun;42(6):745-761. doi: 10.1002/humu.24210. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33942428 Free PMC article.

10

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. Gilea AI, et al. Among authors: ceccatelli berti c. Genes (Basel). 2021 Nov 24;12(12):1866. doi: 10.3390/genes12121866. Genes (Basel). 2021. PMID: 34946817 Free PMC article. Review.

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