Baruffini E[au] - Search Results

Year	Number of Results
2006	2
2007	2
2008	1
2009	5
2010	4
2011	2
2012	2
2013	2
2014	5
2015	6
2016	3
2017	2
2018	3
2019	3
2020	4
2021	10
2022	0

1

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish.

Facchinello N, Laquatra C, Locatello L, Beffagna G, Brañas Casas R, Fornetto C, Dinarello A, Martorano L, Vettori A, Risato G, Celeghin R, Meneghetti G, Santoro MM, Delahodde A, Vanzi F, Rasola A, Dalla Valle L, Rasotto MB, Lodi T, Baruffini E, Argenton F, Tiso N. Facchinello N, et al. Among authors: baruffini e. Cell Death Dis. 2021 Jan 19;12(1):100. doi: 10.1038/s41419-020-03359-z. Cell Death Dis. 2021. PMID: 33469036 Free PMC article.

2

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. Among authors: baruffini e. Genes (Basel). 2021 Feb 20;12(2):300. doi: 10.3390/genes12020300. Genes (Basel). 2021. PMID: 33672627 Free PMC article. Review.

3

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E. Lodi T, et al. Among authors: baruffini e. Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Front Genet. 2015. PMID: 25852747 Free PMC article. Review.

4

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: baruffini e. 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.

5

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

Aleo SJ, Del Dotto V, Fogazza M, Maresca A, Lodi T, Goffrini P, Ghelli A, Rugolo M, Carelli V, Baruffini E, Zanna C. Aleo SJ, et al. Among authors: baruffini e. Hum Mol Genet. 2021 Jan 21;29(22):3631-3645. doi: 10.1093/hmg/ddaa244. Hum Mol Genet. 2021. PMID: 33231680 Free PMC article.

6

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: baruffini e. Genes (Basel). 2021 Nov 24;12(12):1866. doi: 10.3390/genes12121866. Genes (Basel). 2021. PMID: 34946817 Free PMC article. Review.

7

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hytönen MK, et al. Among authors: baruffini e. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9. Hum Genet. 2021. PMID: 33835239 Free PMC article.

8

How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems.

Marchi L, Degola F, Baruffini E, Restivo FM. Marchi L, et al. Among authors: baruffini e. Plant Sci. 2021 Mar;304:110714. doi: 10.1016/j.plantsci.2020.110714. Epub 2020 Oct 14. Plant Sci. 2021. PMID: 33568313

9

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.

Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M. Benincá C, et al. Among authors: baruffini e. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439808 Free PMC article.

10

A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.

di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. di Punzio G, et al. Among authors: baruffini e. Int J Mol Sci. 2021 Nov 12;22(22):12223. doi: 10.3390/ijms222212223. Int J Mol Sci. 2021. PMID: 34830106 Free PMC article.

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