Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Por Casarin, Alberto, Giorgi, Gianpietro, Pertegato, Vanessa, Siviero, Roberta, Cerqua, Cristina, Doimo, Mara, Basso, Giuseppe, Sacconi, Sabrina, Cassina, Matteo, Rizzuto, Rosario, Brosel, Sonja, M Davidson, Mercy, DiMauro, Salvatore, Schon, Eric A, Clementi, Maurizio, Trevisson, Eva, Salviati, Leonardo
Publicado em 2012

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Por Heeringa, Saskia F., Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J., Ji, Ziming, Xie, Letian X., Salviati, Leonardo, Hurd, Toby W., Vega-Warner, Virginia, Killen, Paul D., Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S., McLaughlin, Heather M., Airik, Rannar, Vlangos, Christopher N., Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A., Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, ϖzen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A., Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F., Wiggins, Roger C., Faul, Christian, Hildebrandt, Friedhelm
Publicado em 2011