Výsledky vyhledávání - Baruffini, Enrico

A Single Nucleotide Polymorphism in the DNA Polymerase Gamma Gene of Saccharomyces cerevisiae Laboratory Strains Is Responsible for Increased Mitochondrial DNA Mutability Autor Baruffini, Enrico, Lodi, Tiziana, Dallabona, Cristina, Foury, Françoise

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Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast Autor Baruffini, Enrico, Serafini, Fausta, Ferrero, Iliana, Lodi, Tiziana

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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 Autor Gilberti, Micol, Baruffini, Enrico, Donnini, Claudia, Dallabona, Cristina

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Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae Autor Baruffini, Enrico, Ferrari, Jessica, Dallabona, Cristina, Donnini, Claudia, Lodi, Tiziana

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DNA polymerase γ and disease: what we have learned from yeast Autor Lodi, Tiziana, Dallabona, Cristina, Nolli, Cecilia, Goffrini, Paola, Donnini, Claudia, Baruffini, Enrico

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Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants Autor Figuccia, Sonia, Degiorgi, Andrea, Ceccatelli Berti, Camilla, Baruffini, Enrico, Dallabona, Cristina, Goffrini, Paola

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

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Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy Autor Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele

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Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study Autor Baruffini, Enrico, Ruotolo, Roberta, Bisceglie, Franco, Montalbano, Serena, Ottonello, Simone, Pelosi, Giorgio, Buschini, Annamaria, Lodi, Tiziana

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The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases Autor Ceccatelli Berti, Camilla, di Punzio, Giulia, Dallabona, Cristina, Baruffini, Enrico, Goffrini, Paola, Lodi, Tiziana, Donnini, Claudia

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Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability Autor Gilea, Alexandru Ionut, Ceccatelli Berti, Camilla, Magistrati, Martina, di Punzio, Giulia, Goffrini, Paola, Baruffini, Enrico, Dallabona, Cristina

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Insights into Physiological and Genetic Mupirocin Susceptibility in Bifidobacteria Autor Serafini, Fausta, Bottacini, Francesca, Viappiani, Alice, Baruffini, Enrico, Turroni, Francesca, Foroni, Elena, Lodi, Tiziana, van Sinderen, Douwe, Ventura, Marco

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POLG determines the risk of sodium valproate induced liver toxicity Autor Stewart, Joanna D., Horvath, Rita, Baruffini, Enrico, Ferrero, Iliana, Bulst, Stefanie, Watkins, Paul B., Fontana, Robert J., Day, Christopher P., Chinnery, Patrick F.

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Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations Autor Aleo, Serena J, Del Dotto, Valentina, Fogazza, Mario, Maresca, Alessandra, Lodi, Tiziana, Goffrini, Paola, Ghelli, Anna, Rugolo, Michela, Carelli, Valerio, Baruffini, Enrico, Zanna, Claudia

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Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis Autor Ghezzi, Daniele, Baruffini, Enrico, Haack, Tobias B., Invernizzi, Federica, Melchionda, Laura, Dallabona, Cristina, Strom, Tim M., Parini, Rossella, Burlina, Alberto B., Meitinger, Thomas, Prokisch, Holger, Ferrero, Ileana, Zeviani, Massimo

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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration Autor Hytönen, Marjo K., Sarviaho, Riika, Jackson, Christopher B., Syrjä, Pernilla, Jokinen, Tarja, Matiasek, Kaspar, Rosati, Marco, Dallabona, Cristina, Baruffini, Enrico, Quintero, Ileana, Arumilli, Meharji, Monteuuis, Geoffray, Donner, Jonas, Anttila, Marjukka, Suomalainen, Anu, Bindoff, Laurence A., Lohi, Hannes

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VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies Autor Diodato, Daria, Melchionda, Laura, Haack, Tobias B, Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A, Minczuk, Michal, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele

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Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island Autor Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.

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Defective i(6)A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA Autor Yarham, John W., Lamichhane, Tek N., Pyle, Angela, Mattijssen, Sandy, Baruffini, Enrico, Bruni, Francesco, Donnini, Claudia, Vassilev, Alex, He, Langping, Blakely, Emma L., Griffin, Helen, Santibanez-Koref, Mauro, Bindoff, Laurence A., Ferrero, Ileana, Chinnery, Patrick F., McFarland, Robert, Maraia, Richard J., Taylor, Robert W.

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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features Autor Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, do Valle, Daniel Almeida, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo

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