Amino Acid Starvation Has Opposite Effects on Mitochondrial and Cytosolic Protein Synthesis

por Johnson, Mark A., Vidoni, Sara, Durigon, Romina, Pearce, Sarah F., Rorbach, Joanna, He, Jiuya, Brea-Calvo, Gloria, Minczuk, Michal, Reyes, Aurelio, Holt, Ian J., Spinazzola, Antonella
Publicado 2014

LETM1 couples mitochondrial DNA metabolism and nutrient preference

por Durigon, Romina, Mitchell, Alice L, Jones, Aleck WE, Manole, Andreea, Mennuni, Mara, Hirst, Elizabeth MA, Houlden, Henry, Maragni, Giuseppe, Lattante, Serena, Doronzio, Paolo Niccolo’, Dalla Rosa, Ilaria, Zollino, Marcella, Holt, Ian J, Spinazzola, Antonella
Publicado 2018

MPV17L2 is required for ribosome assembly in mitochondria

por Dalla Rosa, Ilaria, Durigon, Romina, Pearce, Sarah F., Rorbach, Joanna, Hirst, Elizabeth M.A., Vidoni, Sara, Reyes, Aurelio, Brea-Calvo, Gloria, Minczuk, Michal, Woellhaf, Michael W., Herrmann, Johannes M., Huynen, Martijn A., Holt, Ian J., Spinazzola, Antonella
Publicado 2014

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

por Dalla Rosa, Ilaria, Cámara, Yolanda, Durigon, Romina, Moss, Chloe F., Vidoni, Sara, Akman, Gokhan, Hunt, Lilian, Johnson, Mark A., Grocott, Sarah, Wang, Liya, Thorburn, David R., Hirano, Michio, Poulton, Joanna, Taylor, Robert W., Elgar, Greg, Martí, Ramon, Voshol, Peter, Holt, Ian J., Spinazzola, Antonella
Publicado 2016

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

por Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Publicado 2020

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

por Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella
Publicado 2017

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

por Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry
Publicado 2022