Utilization of Human Samples for Assessment of Mitochondrial Bioenergetics: Gold Standards, Limitations, and Future Perspectives

por Acin-Perez, Rebeca, Benincá, Cristiane, Shabane, Byourak, Shirihai, Orian S., Stiles, Linsey
Publicado 2021

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

por Luna-Sanchez, Marta, Benincá, Cristiane, Cerutti, Raffaele, Brea-Calvo, Gloria, Yeates, Anna, Scorrano, Luca, Zeviani, Massimo, Viscomi, Carlo
Publicado 2020

Basal mitophagy is widespread in Drosophila but minimally affected by loss of Pink1 or parkin

por Lee, Juliette J., Sanchez-Martinez, Alvaro, Zarate, Aitor Martinez, Benincá, Cristiane, Mayor, Ugo, Clague, Michael J., Whitworth, Alexander J.
Publicado 2018

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

por Civiletto, Gabriele, Dogan, Sukru Anil, Cerutti, Raffaele, Fagiolari, Gigliola, Moggio, Maurizio, Lamperti, Costanza, Benincá, Cristiane, Viscomi, Carlo, Zeviani, Massimo
Publicado 2018

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

por Dogan, Sukru Anil, Cerutti, Raffaele, Benincá, Cristiane, Brea-Calvo, Gloria, Jacobs, Howard Trevor, Zeviani, Massimo, Szibor, Marten, Viscomi, Carlo
Publicado 2018

A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates

por Fernandez-del-Rio, Lucia, Benincá, Cristiane, Villalobos, Frankie, Shu, Cynthia, Stiles, Linsey, Liesa, Marc, Divakaruni, Ajit S, Acin-Perez, Rebeca, Shirihai, Orian S
Publicado 2023

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

por Zanette, Vanessa, do Valle, Daniel, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane
Publicado 2021

The BCKDK inhibitor BT2 is a chemical uncoupler that lowers mitochondrial ROS production and de novo lipogenesis

por Acevedo, Aracely, Jones, Anthony E., Danna, Bezawit T., Turner, Rory, Montales, Katrina P., Benincá, Cristiane, Reue, Karen, Shirihai, Orian S., Stiles, Linsey, Wallace, Martina, Wang, Yibin, Bertholet, Ambre M., Divakaruni, Ajit S.
Publicado 2023

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

por Mohanraj, Karthik, Wasilewski, Michal, Benincá, Cristiane, Cysewski, Dominik, Poznanski, Jaroslaw, Sakowska, Paulina, Bugajska, Zaneta, Deckers, Markus, Dennerlein, Sven, Fernandez‐Vizarra, Erika, Rehling, Peter, Dadlez, Michal, Zeviani, Massimo, Chacinska, Agnieszka
Publicado 2019

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

por 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
Publicado 2018

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

por Zanette, Vanessa, Reyes, Aurelio, Johnson, Mark, do Valle, Daniel, Robinson, Alan J., Monteiro, Vaneisse, Telles, Bruno Augusto, L.R. Souza, Ricardo, S.F. Santos, Mara L, Benincá, Cristiane, Zeviani, Massimo
Publicado 2020

Tetra-arylborate lipophilic anions as targeting groups

por Gaddale Devanna, Kishore K., Gawel, Justyna M., Prime, Tracy A., Cvetko, Filip, Benincá, Cristiane, Caldwell, Stuart T., Negoda, Alexander, Harrison, Andrew, James, Andrew M., Pavlov, Evgeny V., Murphy, Michael P., Hartley, Richard C.
Publicado 2021

Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies

por Acin‐Perez, Rebeca, Benincá, Cristiane, Fernandez del Rio, Lucia, Shu, Cynthia, Baghdasarian, Siyouneh, Zanette, Vanessa, Gerle, Christoph, Jiko, Chimari, Khairallah, Ramzi, Khan, Shaharyar, Rincon Fernandez Pacheco, David, Shabane, Byourak, Erion, Karel, Masand, Ruchi, Dugar, Sundeep, Ghenoiu, Cristina, Schreiner, George, Stiles, Linsey, Liesa, Marc, Shirihai, Orian S
Publicado 2023

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

por Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2020

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

por Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, do Valle, Daniel Almeida, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Publicado 2021

Selective Disruption of Mitochondrial Thiol Redox State in Cells and In Vivo

por Booty, Lee M., Gawel, Justyna M., Cvetko, Filip, Caldwell, Stuart T., Hall, Andrew R., Mulvey, John F., James, Andrew M., Hinchy, Elizabeth C., Prime, Tracy A., Arndt, Sabine, Beninca, Cristiane, Bright, Thomas P., Clatworthy, Menna R., Ferdinand, John R., Prag, Hiran A., Logan, Angela, Prudent, Julien, Krieg, Thomas, Hartley, Richard C., Murphy, Michael P.
Publicado 2019

Neural stem cells traffic functional mitochondria via extracellular vesicles

por Peruzzotti-Jametti, Luca, Bernstock, Joshua D., Willis, Cory M., Manferrari, Giulia, Rogall, Rebecca, Fernandez-Vizarra, Erika, Williamson, James C., Braga, Alice, van den Bosch, Aletta, Leonardi, Tommaso, Krzak, Grzegorz, Kittel, Ágnes, Benincá, Cristiane, Vicario, Nunzio, Tan, Sisareuth, Bastos, Carlos, Bicci, Iacopo, Iraci, Nunzio, Smith, Jayden A., Peacock, Ben, Muller, Karin H., Lehner, Paul J., Buzas, Edit Iren, Faria, Nuno, Zeviani, Massimo, Frezza, Christian, Brisson, Alain, Matheson, Nicholas J., Viscomi, Carlo, Pluchino, Stefano
Publicado 2021