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di Punzio G, Gilberti M, Baruffini E, et al. 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. Int J Mol Sci. 2021;22(22)doi: 10.3390/ijms222212223.
di Punzio, G., Gilberti, M., Baruffini, E., Lodi, T., Donnini, C., & Dallabona, C. (2021). 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. International journal of molecular sciences, 22(22), . https://doi.org/10.3390/ijms222212223
di Punzio, Giulia, et al. "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." International journal of molecular sciences vol. 22,22 (2021). doi: https://doi.org/10.3390/ijms222212223
di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. 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. Int J Mol Sci. 2021 Nov 12;22(22). doi: 10.3390/ijms222212223. PMID: 34830106; PMCID: PMC8621932.
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Int J Mol Sci. 2021 Nov 12;22(22). doi: 10.3390/ijms222212223.

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.

International journal of molecular sciences

Giulia di Punzio, Micol Gilberti, Enrico Baruffini, Tiziana Lodi, Claudia Donnini, Cristina Dallabona

Affiliations

  1. Department of Chemistry Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.

PMID: 34830106 PMCID: PMC8621932 DOI: 10.3390/ijms222212223

Abstract

Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, characterized by a reduction of the number of copies of mitochondrial DNA (mtDNA) in affected tissues. In the context of MDS, yeast has proved to be both an excellent model for the study of the mechanisms underlying mitochondrial pathologies and for the discovery of new therapies via high-throughput assays. Among the several genes involved in MDS, it has been shown that recessive mutations in MPV17 cause a hepatocerebral form of MDS and Navajo neurohepatopathy. MPV17 encodes a non selective channel in the inner mitochondrial membrane, but its physiological role and the nature of its cargo remains elusive. In this study we identify ten drugs active against MPV17 disorder, modelled in yeast using the homologous gene

Keywords: MIP1; MPV17; POLG; RNR2; RRM2B; SYM1; drug repurposing; mitochondrial DNA depletion syndromes (MDS); mitochondrial dNTP pool; yeast

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