IRIS

DALLABONA, Cristina

DALLABONA, Cristina  

Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale  

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Risultati 1 - 20 di 72 (tempo di esecuzione: 0.025 secondi).
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A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis and severe reduction of mitochondrial complex III activity. 1-gen-2013 F., Invernizzi; M., Tigano; Dallabona, Cristina; Donnini, Claudia; I., Ferrero; M., Cremonte; D., Ghezzi; C., Lamperti; M., Zeviani
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature 1-gen-2015 Ardissone, Anna; Lamantea, Eleonora; Quartararo, Jade; Dallabona, Cristina; Carrara, Franco; Moroni, Isabella; Donnini, Claudia; Garavaglia, Barbara; Zeviani, Massimo; Uziel, Graziella
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 1-gen-2007 Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; Foury, F.
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 1-gen-2021 Di Punzio, G.; Gilberti, M.; Baruffini, E.; Lodi, T.; Donnini, C.; Dallabona, C.
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 1-gen-2021 DI PUNZIO, Giulia; Gilberti, Micol; Magistrati, Martina; Leotta, Antonella; Gilea, ALEXANDRU IONUT; Baruffini, Enrico; Lodi, Tiziana; Donnini, Claudia; Dallabona, Cristina
A yeast-based screening unravels potential therapeutic molecules for mitochondrial diseases associated with dominant ant1 mutations 1-gen-2021 Di Punzio, G.; Di Noia, M. A.; Delahodde, A.; Sellem, C.; Donnini, C.; Palmieri, L.; Lodi, T.; Dallabona, C.
Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations 1-gen-2021 Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S.
Characterization of the Saccharomyces cerevisiae SYM1 gene, ortholog of the human desease gene MPV17 1-gen-2007 Dallabona, Cristina; Marsano, Rene' Massimiliano; Donnini, Claudia
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 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 .
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
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.
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 1-gen-2016 Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D’Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per M.; Zeviani, Massimo; Bindoff, Laurence A.
DNA polymerase [gamma] and disease: what we have learned from yeast 1-gen-2015 Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico
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
Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions 1-gen-2015 Tigano, Marco; Ruotolo, Roberta; Dallabona, Cristina; Fontanesi, Flavia; Barrientos, Antoni; Donnini, Claudia; Ottonello, Simone
Epigenetic alterations in prescription opioid misuse: New strategies for precision pain management 1-gen-2021 Gerra, M. C.; Dallabona, C.; Arendt-Nielsen, L.
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 1-gen-2022 Wongkittichote, Parith; Magistrati, Martina; Shimony, Joshua S; Smyser, Christopher D; Fatemi, Seyed Ali; Fine, Amena S; Bellacchio, Emanuele; Dallabona, Cristina; Shinawi, Marwan
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 1-gen-2006 Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; A., Puglisi; M., Zeviani; FERRERO FORTUNATI, Iliana
Genetic, physiological and molecular characterization of MPV17/SYM1 mutations in S. cerevisiae 1-gen-2014 Gilberti, Micol; Donnini, Claudia; Ferrero, Ileana; Dallabona, Cristina