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Gilea AI, Ceccatelli Berti C, Magistrati M, et al. . Genes (Basel). 2021;12(12)doi: 10.3390/genes12121866.
Gilea, A. I., Ceccatelli Berti, C., Magistrati, M., di Punzio, G., Goffrini, P., Baruffini, E., & Dallabona, C. (2021). . Genes, 12(12), . https://doi.org/10.3390/genes12121866
Gilea, Alexandru Ionut, et al. "." Genes vol. 12,12 (2021). doi: https://doi.org/10.3390/genes12121866
Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. . Genes (Basel). 2021 Nov 24;12(12). doi: 10.3390/genes12121866. PMID: 34946817; PMCID: PMC8701800.
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Genes (Basel). 2021 Nov 24;12(12). doi: 10.3390/genes12121866.

[No title available]

Genes

Alexandru Ionut Gilea, Camilla Ceccatelli Berti, Martina Magistrati, Giulia di Punzio, Paola Goffrini, Enrico Baruffini, 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: 34946817 PMCID: PMC8701800 DOI: 10.3390/genes12121866

Abstract

Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respiratory chain complexes are mitochondrially encoded. Pathological mutations in nuclear genes involved in the mtDNA metabolism may result in a quantitative decrease in mtDNA levels, referred to as mtDNA depletion, or in qualitative defects in mtDNA, especially in multiple deletions. Since, in the last decade, most of the novel mutations have been identified through whole-exome sequencing, it is crucial to confirm the pathogenicity by functional analysis in the appropriate model systems. Among these, the yeast

Keywords: MPV17/SYM1; MRM2/MRM2; OPA1/MGM1; POLG/MIP1; RRM2B/RNR2; SLC25A4 (ANT1)/AAC2; diseases associated with mtDNA deletions; drug repurposing; mtDNA depletion syndromes; yeast model

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