Sfoglia per Autore
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
2020 Tort, Frederic; Barredo, Estibaliz; Parthasarathy, Ranjani; Ugarteburu, Olatz; Ferrer-Cortès, Xenia; García-Villoria, Judit; Gort, Laura; González-Quintana, Adrián; Martín, Miguel A; Fernández-Vizarra, Erika; Zeviani, Massimo; Ribes, Antonia
Strategies for fighting mitochondrial diseases
2020 Viscomi, Carlo; Zeviani, Massimo
Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease
2020 Luna-Sanchez, M.; Beninca, C.; Cerutti, R.; Brea-Calvo, G.; Yeates, A.; Scorrano, L.; Zeviani, M.; Viscomi, C.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
2020 Hirano, M.; Carelli, V.; De Giorgio, R.; Pironi, L.; Accarino, A.; Cenacchi, G.; D'Alessandro, R.; Filosto, M.; Marti, R.; Nonino, F.; Pinna, A. D.; Baldin, E.; Bax, B. E.; Bolletta, A.; Bolletta, R.; Boschetti, E.; Cescon, M.; D'Angelo, R.; Dotti, M. T.; Giordano, C.; Gramegna, L. L.; Levene, M.; Lodi, R.; Mandel, H.; Morelli, M. C.; Musumeci, O.; Pugliese, A.; Scarpelli, M.; Siniscalchi, A.; Spinazzola, A.; Tal, G.; Torres-Torronteras, J.; Vignatelli, L.; Zaidman, I.; Zoller, H.; Rinaldi, R.; Zeviani, M.
Cytochrome c oxidase deficiency
2020 Brischigliaro, M.; Zeviani, M.
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7
2019 Mohanraj, K; Wasilewski, M; Beninca, C; Cysewski, D; Poznanski, J; Sakowska, P; Bugajska, Z; Deckers, M; Dennerlein, S; Fernandez-Vizarra, Erika; Rehling, P; Dadlez, M; Zeviani, M; Chacinska, A
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction
2019 Costa, R.; Peruzzo, R.; Bachmann, M.; Monta, G. D.; Vicario, M.; Santinon, G.; Mattarei, A.; Moro, E.; Quintana-Cabrera, R.; Scorrano, L.; Zeviani, M.; Vallese, F.; Zoratti, M.; Paradisi, C.; Argenton, F.; Brini, M.; Cali, T.; Dupont, S.; Szabo, I.; Leanza, L.
Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster
2019 Brischigliaro, Michele; Corra', Samantha; Tregnago, Claudia; Fernandez-Vizarra, Erika; Zeviani, Massimo; Costa, Rodolfo; DE PITTA', Cristiano
Modelling the human mitochondrial disease related to APOPT1 in Drosophila melanogaster
2019 Brischigliaro, Michele; Corra', Samantha; Tregnago, Claudia; Fernandez-Vizarra, Erika; Zeviani, Massimo; Costa, Rodolfo; DE PITTA', Cristiano
miR-181a/b downregulation exerts a protective action on mitochondrial disease models
2019 Indrieri, Alessia; Carrella, Sabrina; Romano, Alessia; Spaziano, Alessandra; Marrocco, Elena; Fernandez-Vizarra, Erika; Barbato, Sara; Pizzo, Mariateresa; Ezhova, Yulia; Golia, Francesca M; Ciampi, Ludovica; Tammaro, Roberta; Henao-Mejia, Jorge; Williams, Adam; Flavell, Richard A; De Leonibus, Elvira; Zeviani, Massimo; Surace, Enrico M; Banfi, Sandro; Franco, Brunella
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS
2019 Signes, Alba; Cerutti, Raffaele; Dickson, Anna S; Benincá, Cristiane; Hinchy, Elizabeth C; Ghezzi, Daniele; Carrozzo, Rosalba; Bertini, Enrico; Murphy, Michael P; Nathan, James A; Viscomi, Carlo; Fernandez-Vizarra, Erika; Zeviani, Massimo
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS
2019 Signes, A.; Cerutti, R.; Dickson, A. S.; Beninca, C.; Hinchy, E. C.; Ghezzi, D.; Carrozzo, R.; Bertini, E.; Murphy, M. P.; Nathan, J. A.; Viscomi, C.; Fernandez-Vizarra, E.; Zeviani, M.
Exploring the role of dMpv17 in mitochondrial function and metabolism
2019 Corra', Samantha; Brischigliaro, Michele; Checchetto, Vanessa; Bottani, Emanuela; Rampazzo, Chiara; Cortese, Katia; Ildikò, Szabò; Zeviani, Massimo; Costa, Rodolfo; DE PITTA', Cristiano
Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!
2019 Viscomi, C.; Zeviani, M.
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
2019 Posse, V.; Al-Behadili, A.; Uhler, J. P.; Clausen, A. R.; Reyes, A.; Zeviani, M.; Falkenberg, M.; Gustafsson, C. M.
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7
2019 Mohanraj, K.; Wasilewski, M.; Beninca, C.; Cysewski, D.; Poznanski, J.; Sakowska, P.; Bugajska, Z.; Deckers, M.; Dennerlein, S.; Fernandez-Vizarra, E.; Rehling, P.; Dadlez, M.; Zeviani, M.; Chacinska, A.
miR-181a/b downregulation exerts a protective action on mitochondrial disease models
2019 Indrieri, A.; Carrella, S.; Romano, A.; Spaziano, A.; Marrocco, E.; Fernandez-Vizarra, E.; Barbato, S.; Pizzo, M.; Ezhova, Y.; Golia, F. M.; Ciampi, L.; Tammaro, R.; Henao-Mejia, J.; Williams, A.; Flavell, R. A.; De Leonibus, E.; Zeviani, M.; Surace, E. M.; Banfi, S.; Franco, B.
Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster
2019 Brischigliaro, Michele; Corrà, Samantha; Tregnago, Claudia; Fernandez-Vizarra, Erika; Zeviani, Massimo; Costa, Rodolfo; De Pittà, Cristiano
Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients
2019 Musumeci, O.; Barca, E.; Lamperti, C.; Servidei, S.; Comi, G. P.; Moggio, M.; Mongini, T.; Siciliano, G.; Filosto, M.; Pegoraro, E.; Primiano, G.; Ronchi, D.; Vercelli, L.; Orsucci, D.; Bello, L.; Zeviani, M.; Mancuso, M.; Toscano, A.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
2018 Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rötig, Agnes; Ardissone, Anna; Lombès, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; De Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joél; Mayr, Johannes A.; Dai, Lifang; De Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; Mcfarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Han, Ling; Fang, Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia
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