A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4(−/−) Mice

door Silva-Pinheiro, Pedro, Cerutti, Raffaele, Luna-Sanchez, Marta, Zeviani, Massimo, Viscomi, Carlo
Gepubliceerd in Mol Ther Methods Clin Dev (2020)

Opa1 Overexpression Protects from Early-Onset Mpv17(−/−)-Related Mouse Kidney Disease

door Luna-Sanchez, Marta, Benincá, Cristiane, Cerutti, Raffaele, Brea-Calvo, Gloria, Yeates, Anna, Scorrano, Luca, Zeviani, Massimo, Viscomi, Carlo
Gepubliceerd in Mol Ther (2020)

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

door Viscomi, Carlo, Bottani, Emanuela, Civiletto, Gabriele, Cerutti, Raffaele, Moggio, Maurizio, Fagiolari, Gigliola, Schon, Eric A., Lamperti, Costanza, Zeviani, Massimo
Gepubliceerd in 2011

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

door Civiletto, Gabriele, Dogan, Sukru Anil, Cerutti, Raffaele, Fagiolari, Gigliola, Moggio, Maurizio, Lamperti, Costanza, Benincá, Cristiane, Viscomi, Carlo, Zeviani, Massimo
Gepubliceerd in EMBO Mol Med (2018)

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

door Dogan, Sukru Anil, Cerutti, Raffaele, Benincá, Cristiane, Brea-Calvo, Gloria, Jacobs, Howard Trevor, Zeviani, Massimo, Szibor, Marten, Viscomi, Carlo
Gepubliceerd in Cell Metab (2018)

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

door Civiletto, Gabriele, Varanita, Tatiana, Cerutti, Raffaele, Gorletta, Tatiana, Barbaro, Serena, Marchet, Silvia, Lamperti, Costanza, Viscomi, Carlo, Scorrano, Luca, Zeviani, Massimo
Gepubliceerd in Cell Metab (2015)

NAD(+)-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

door Cerutti, Raffaele, Pirinen, Eija, Lamperti, Costanza, Marchet, Silvia, Sauve, Anthony A., Li, Wei, Leoni, Valerio, Schon, Eric A., Dantzer, Françoise, Auwerx, Johan, Viscomi, Carlo, Zeviani, Massimo
Gepubliceerd in 2014

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

door 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
Gepubliceerd in EMBO Mol Med (2018)

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

door Gammage, Payam A., Viscomi, Carlo, Simard, Marie-Lune, Costa, Ana S.H., Gaude, Edoardo, Powell, Christopher A., Van Haute, Lindsey, McCann, Beverly J., Rebelo-Guiomar, Pedro, Cerutti, Raffaele, Zhang, Lei, Rebar, Edward J., Zeviani, Massimo, Frezza, Christian, Stewart, James B., Minczuk, Michal
Gepubliceerd in Nat Med (2018)

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

door Silva-Pinheiro, Pedro, Pardo-Hernández, Carlos, Reyes, Aurelio, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian, Dogan, Sukru A, Peter, Bradley, Fernández-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria, Viscomi, Carlo
Gepubliceerd in Nucleic Acids Res (2021)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

door 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
Gepubliceerd in EMBO Mol Med (2015)