Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Por Fernández-Vizarra, Erika, Zeviani, Massimo
Publicado no Front Genet (2015)

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Por Fernandez‐Vizarra, Erika, Berardinelli, Angela, Valente, Lucia, Tiranti, Valeria, Zeviani, Massimo
Publicado em 2007

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Por Fernandez-Vizarra, Erika, Berardinelli, Angela, Valente, Lucia, Tiranti, Valeria, Zeviani, Massimo
Publicado em 2009

Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

Por Arzuffi, Paola, Lamperti, Costanza, Fernandez-Vizarra, Erika, Tonin, Paola, Morandi, Lucia, Zeviani, Massimo
Publicado em 2012

How Do Human Cells React to the Absence of Mitochondrial DNA?

Por Mineri, Rossana, Pavelka, Norman, Fernandez-Vizarra, Erika, Ricciardi-Castagnoli, Paola, Zeviani, Massimo, Tiranti, Valeria
Publicado em 2009

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

Por Sánchez, Ester, Lobo, Teresa, Fox, Jennifer L., Zeviani, Massimo, Winge, Dennis R., Fernández-Vizarra, Erika
Publicado em 2012

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

Por Ghezzi, Daniele, Saada, Ann, D'Adamo, Pio, Fernandez-Vizarra, Erika, Gasparini, Paolo, Tiranti, Valeria, Elpeleg, Orly, Zeviani, Massimo
Publicado em 2008

Redox activation of mitochondrial intermembrane space Cu,Zn-superoxide dismutase

Por Iñarrea, Pedro, Moini, Hadi, Rettori, Daniel, Han, Derick, Martínez, Jesús, García, Inés, Fernández-Vizarra, Erika, Iturralde, María, Cadenas, Enrique
Publicado em 2005

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Por Viscomi, Carlo, Spinazzola, Antonella, Maggioni, Marco, Fernandez-Vizarra, Erika, Massa, Valeria, Pagano, Claudio, Vettor, Roberto, Mora, Marina, Zeviani, Massimo
Publicado em 2009

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

Por van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Publicado no Am J Hum Genet (2015)

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Por Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Publicado no J Med Genet (2016)

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Por Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo
Publicado em 2008

Five Entry Points of the Mitochondrially Encoded Subunits in Mammalian Complex I Assembly

Por Perales-Clemente, Ester, Fernández-Vizarra, Erika, Acín-Pérez, Rebeca, Movilla, Nieves, Bayona-Bafaluy, María Pilar, Moreno-Loshuertos, Raquel, Pérez-Martos, Acisclo, Fernández-Silva, Patricio, Enríquez, José Antonio
Publicado em 2010

Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice

Por Quirós, Pedro M, Ramsay, Andrew J, Sala, David, Fernández-Vizarra, Erika, Rodríguez, Francisco, Peinado, Juan R, Fernández-García, Maria Soledad, Vega, José A, Enríquez, José A, Zorzano, Antonio, López-Otín, Carlos
Publicado em 2012

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Por Valente, Lucia, Tiranti, Valeria, Marsano, René Massimiliano, Malfatti, Edoardo, Fernandez-Vizarra, Erika, Donnini, Claudia, Mereghetti, Paolo, De Gioia, Luca, Burlina, Alberto, Castellan, Claudio, Comi, Giacomo P., Savasta, Salvatore, Ferrero, Iliana, Zeviani, Massimo
Publicado em 2007

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

Por Di Nottia, Michela, Montanari, Arianna, Verrigni, Daniela, Oliva, Romina, Torraco, Alessandra, Fernandez-Vizarra, Erika, Diodato, Daria, Rizza, Teresa, Bianchi, Marzia, Catteruccia, Michela, Zeviani, Massimo, Dionisi-Vici, Carlo, Francisci, Silvia, Bertini, Enrico, Carrozzo, Rosalba
Publicado no Biochim Biophys Acta (2017)

COX7A2L is a mitochondrial complex III-binding protein that stabilizes the III(2)+IV supercomplex without affecting respirasome formation

Por Pérez-Pérez, Rafael, Lobo-Jarne, Teresa, Milenkovic, Dusanka, Mourier, Arnaud, Bratic, Ana, García-Bartolomé, Alberto, Fernández-Vizarra, Erika, Cadenas, Susana, Delmiro, Aitor, García-Consuegra, Inés, Arenas, Joaquín, Martín, Miguel A., Larsson, Nils-Göran, Ugalde, Cristina
Publicado no Cell Rep (2016)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Por 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
Publicado no EMBO Mol Med (2015)

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Por Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
Publicado em 2014