Mitochondrial transcript maturation and its disorders

Por Van Haute, Lindsey, Pearce, Sarah F., Powell, Christopher A., D’Souza, Aaron R., Nicholls, Thomas J., Minczuk, Michal
Publicado no J Inherit Metab Dis (2015)

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

Por Pearce, Sarah F., Rebelo-Guiomar, Pedro, D’Souza, Aaron R., Powell, Christopher A., Van Haute, Lindsey, Minczuk, Michal
Publicado no Trends Biochem Sci (2017)

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome

Por Rorbach, Joanna, Boesch, Pierre, Gammage, Payam A., Nicholls, Thomas J. J., Pearce, Sarah F., Patel, Dipali, Hauser, Andreas, Perocchi, Fabiana, Minczuk, Michal
Publicado em 2014

Maturation of selected human mitochondrial tRNAs requires deadenylation

Por Pearce, Sarah F, Rorbach, Joanna, Haute, Lindsey Van, D’Souza, Aaron R, Rebelo-Guiomar, Pedro, Powell, Christopher A, Brierley, Ian, Firth, Andrew E, Minczuk, Michal
Publicado no eLife (2017)

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 em 2014

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 em 2014

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Por Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Publicado no Nat Commun (2016)

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Por Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Publicado no Am J Hum Genet (2014)