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DEFECTIVE MITOCHONDRIAL rRNA METHYLTRANSFERASE (MRM2) CAUSES A MELAS-LIKE SYNDROME 1-gen-2017 Garone, Caterina; D’Souza, Aaron R.; Dallabona, Cristina; Lodi, Tiziana; Rebelo Guiomar, Pedro; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah; Mootha, Vamsi; Dimauro, Salvatore; Ferrero, Ileana; Minczuk, Michal .
Yeast model of mitochondrial involvement of Aβ amyloidotic neurodegeneration 1-gen-2017 Dallabona, Cristina
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 1-gen-2017 Gilberti, Micol; CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Degiorgi, Andrea; Baruffini, Enrico; Dallabona, Cristina
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 1-gen-2017 CECCATELLI BERTI, Camilla; Gilberti, Micol; Degiorgi, Andrea; DI PUNZIO, Giulia; Baruffini, Enrico; Dallabona, Cristina
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 1-gen-2017 Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy 1-gen-2017 Sommerville, Ew; Ng, Ys; Alston, Cl; Dallabona, Cristina; Gilberti, Micol; He, L; Knowles, C; Chin, Sl; Schaefer, Am; Falkous, G; Murdoch, D; Longman, C; de Visser, M; Bindoff, La; Rawles, Jm; Dean, Jc; Petty, Rk; Farrugia, Me; Haack, Tb; Prokisch, H; Mcfarland, R; Turnbull, Dm; Donnini, Claudia; Taylor, Rw; Gorman, Gs
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome 1-gen-2017 Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, Ma; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, Se; Mootha, Vk; Dimauro, S; Ferrero, I; Minczuk, M.
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 1-gen-2018 DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 1-gen-2018 DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
The power of yeast in modeling human mutations leading to mitochondrial disease 1-gen-2018 CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Pelosi, Federica; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
MUTATIONS IN THE GENES QRSL1, GATB, AND GATC ENCODING THE SUBUNITS OF GLUTAMYL-TRNA(GLN) AMIDOTRANSFERASE CAUSE A MITOCHONDRIAL DISORDER WITH LETHAL INFANTILE CARDIOMYOPATHY 1-gen-2018 Friederich, Mw; Timal, S; Powell, C; Dallabona, C; Kurolap, A; Palacios-Zambrano, S; Bratkovic, D; Derks, T; Fernandez-Moreno, Ma; Baris, Hn; Donnini, C; Minczuk, M; Rodenburg, Rj; Van Hove, Jlk
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome 1-gen-2018 Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, A; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, S; Mootha, V; Dimauro, S; Ferrero, I; Minczuk, M
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene 1-gen-2018 Smith, Frances; Hopton, Sila; Dallabona, Cristina; Gilberti, Micol; Falkous, Gavin; Norwood, Fiona; Donnini, Claudia; S Gorman, Gráinne; Clark, Barnaby; W Taylor, Robert; G Kulasekararaj, Austin
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 1-gen-2018 Gilberti, Micol; Baruffini, Enrico; Donnini, Claudia; Dallabona, Cristina
Pathogenic variants in glutamyl-tRNAGlnamidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder 1-gen-2018 Friederich, Mw; Timal, S; Powell, Ca; Dallabona, C; Kurolap, A; Palacios-Zambrano, S; Bratkovic, D; Derks, Tgj; Bick, D; Bouman, K; Chatfield, Kc; Damouny-Naoum, N; Dishop, Mk; Falik-Zaccai, Tc; Fares, F; Fedida, A; Ferrero, I; Gallagher, Rc; Garesse, R; Gilberti, M; González, C; Gowan, K; Habib, C; Halligan, Rk; Kalfon, L; Knight, K; Lefeber, D; Mamblona, L; Mandel, H; Mory, A; Ottoson, J; Paperna, T; Pruijn, Gjm; Rebelo-Guiomar, Pf; Saada, A; Sainz, B Jr; Salvemini, H; Schoots, Mh; Smeitink, Ja; Szukszto, Mj; Ter Horst, Hj; van den Brandt, F; van Spronsen, Fj; Veltman, Ja; Wartchow, E; Wintjes, Lt; Zohar, Y; Fernández-Moreno, Ma; Baris, Hn; Donnini, C; Minczuk, M; Rodenburg, Rj; Van Hove, Jlk.
Research of potentially therapeutic molecules for Hepatocerebral Mitochondrial DNA Depletion Syndrome caused by mutations in the MPV17 gene 1-gen-2019 DI PUNZIO, Giulia; Dallabona, Cristina; Donnini, Claudia
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy 1-gen-2019 Maffezzini, C.; Laine, I.; Dallabona, C.; Clemente, P.; Calvo-Garrido, J.; Wibom, R.; Naess, K.; Barbaro, M.; Falk, A.; Donnini, C.; Freyer, C.; Wredenberg, A.; Wedell, A.
Sabotage at the powerhouse? Unraveling the Molecular Target of 2-Isopropylbenzaldehyde Thiosemicarbazone, a Specific Inhibitor of Aflatoxin Biosynthesis and Sclerotia Development in Aspergillus flavus, Using Yeast as a Model System 1-gen-2019 Dallabona, C.; Pioli, M.; Spadola, G.; Orsoni, N.; Bisceglie, F.; Lodi, T.; Pelosi, G.; Restivo, F. M.; Degola, F.
Yeast expression of mammalian Onzin and fungal FCR1 suggests ancestral functions of PLAC8 proteins in mitochondrial metabolism and DNA repair 1-gen-2019 Daghino, Stefania; Di Vietro, Luigi; Petiti, Luca; Martino, Elena; Dallabona, Cristina; Lodi, Tiziana; Perotto, Silvia
Yeast as a model system to propose therapies for Mitochondrial Complex III Deficiency 1-gen-2020 Dallabona, Cristina; Mietto, Martina; DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Gilberti, Micol
Mostrati risultati da 41 a 60 di 82
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