检索结果 - Baruffini, Enrico

A Single Nucleotide Polymorphism in the DNA Polymerase Gamma Gene of Saccharomyces cerevisiae Laboratory Strains Is Responsible for Increased Mitochondrial DNA Mutability 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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