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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
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- EMBO Molecular Medicine, 2016, v. 8, n. 3, p. 176, doi. 10.15252/emmm.201505894
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- Article
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2178, doi. 10.3390/ijms24032178
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- Article
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.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12223, doi. 10.3390/ijms222212223
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- Article
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4524, doi. 10.3390/ijms22094524
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- Article
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
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- Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y
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- Article
A Single Nucleotide Polymorphism in the DNA Polymerase Gamma Gene of Saccharomyces cerevisiae Laboratory Strains Is Responsible for Increased Mitochondrial DNA Mutability.
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- Genetics, 2007, v. 177, n. 2, p. 1227, doi. 10.1534/genetics.107.079293
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- Article
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast.
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- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034322
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DNA polymerase γ and disease: what we have learned from yeast.
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- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00106
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- Article
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains.
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- Environmental Microbiology, 2015, v. 17, n. 8, p. 3069, doi. 10.1111/1462-2920.12950
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- Article
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae.
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- Human Molecular Genetics, 2024, v. 33, n. 13, p. 1152, doi. 10.1093/hmg/ddae057
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- Article
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67439-y
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- Article
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.
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- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3631, doi. 10.1093/hmg/ddaa244
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- Article
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 715, doi. 10.1093/hmg/ddv509
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- Article
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
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- Cell Death & Disease, 2024, v. 15, n. 4, p. 1, doi. 10.1038/s41419-024-06622-9
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- Article
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish.
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- Cell Death & Disease, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41419-020-03359-z
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- Article
Defective i<sup>6</sup>A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.
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- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424
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- Article
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
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- Human Mutation, 2021, v. 42, n. 6, p. 745, doi. 10.1002/humu.24210
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- Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
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- Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
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- Article
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
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- Human Mutation, 2016, v. 37, n. 9, p. 898, doi. 10.1002/humu.23033
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VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.
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- Human Mutation, 2014, v. 35, n. 8, p. 983, doi. 10.1002/humu.22590
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- Article
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.
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- Human Mutation, 2013, v. 34, n. 11, p. 1501, doi. 10.1002/humu.22393
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- Article
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
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- Journal of Molecular Medicine, 2019, v. 97, n. 11, p. 1557, doi. 10.1007/s00109-019-01834-5
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- Article
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
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- Human Molecular Genetics, 2006, v. 15, n. 19, p. 2846, doi. 10.1093/hmg/ddl219
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- Article
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders.
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- IUBMB Life, 2023, v. 75, n. 12, p. 983, doi. 10.1002/iub.2770
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- Article
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
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- Genes, 2021, v. 12, n. 12, p. 1866, doi. 10.3390/genes12121866
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- Article
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.
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- Genes, 2021, v. 12, n. 2, p. 300, doi. 10.3390/genes12020300
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Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
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- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205014
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Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10696, doi. 10.3390/ijms241310696
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- Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
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- Article