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)

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)

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Por Garone, Caterina, D’Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal
Publicado no Hum Mol Genet (2017)

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Por Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, Michal
Publicado no Am J Hum Genet (2015)

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Por Feichtinger, René G., Oláhová, Monika, Kishita, Yoshihito, Garone, Caterina, Kremer, Laura S., Yagi, Mikako, Uchiumi, Takeshi, Jourdain, Alexis A., Thompson, Kyle, D’Souza, Aaron R., Kopajtich, Robert, Alston, Charlotte L., Koch, Johannes, Sperl, Wolfgang, Mastantuono, Elisa, Strom, Tim M., Wortmann, Saskia B., Meitinger, Thomas, Pierre, Germaine, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M., Lightowlers, Robert N., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Moggio, Maurizio, Sciacco, Monica, Comi, Giacomo P., Ronchi, Dario, Murayama, Kei, Ohtake, Akira, Rebelo-Guiomar, Pedro, Kohda, Masakazu, Kang, Dongchon, Mayr, Johannes A., Taylor, Robert W., Okazaki, Yasushi, Minczuk, Michal, Prokisch, Holger
Publicado no Am J Hum Genet (2017)