TRMT2B is responsible for both tRNA and rRNA m(5)U-methylation in human mitochondria

por Powell, Christopher A., Minczuk, Michal
Publicado 2020

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

por Powell, Christopher A., Nicholls, Thomas J., Minczuk, Michal
Publicado 2015

Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNA(Met)

por Van Haute, Lindsey, Powell, Christopher A., Minczuk, Michal
Publicado 2017

The mammalian mitochondrial epitranscriptome()

por Rebelo-Guiomar, Pedro, Powell, Christopher A., Van Haute, Lindsey, Minczuk, Michal
Publicado 2019

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 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 2017

A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome

por Silva-Pinheiro, Pedro, Mutti, Christian D., Van Haute, Lindsey, Powell, Christopher A., Nash, Pavel A., Turner, Keira, Minczuk, Michal
Publicado 2022

YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria

por D’Souza, Aaron R, Van Haute, Lindsey, Powell, Christopher A, Mutti, Christian D, Páleníková, Petra, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Minczuk, Michal
Publicado 2021

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 2017

METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis

por Haute, Lindsey Van, Hendrick, Alan G, D’Souza, Aaron R, Powell, Christopher A, Rebelo-Guiomar, Pedro, Harbour, Michael E, Ding, Shujing, Fearnley, Ian M, Andrews, Byron, Minczuk, Michal
Publicado 2019

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

por Zaganelli, Sofia, Rebelo-Guiomar, Pedro, Maundrell, Kinsey, Rozanska, Agata, Pierredon, Sandra, Powell, Christopher A., Jourdain, Alexis A., Hulo, Nicolas, Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M., Minczuk, Michal, Martinou, Jean-Claude
Publicado 2017

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

por Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.
Publicado 2023

TRNT1 deficiency: clinical, biochemical and molecular genetic features

por Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A., Pearce, Sarah, Plagnol, Vincent, Saldanha, José W., Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B., Taanman, Jan-Willem, Minczuk, Michal, Clayton, Peter T., Rahman, Shamima
Publicado 2016

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

por Ryan, Dylan Gerard, Yang, Ming, Prag, Hiran A, Blanco, Giovanny Rodriguez, Nikitopoulou, Efterpi, Segarra-Mondejar, Marc, Powell, Christopher A, Young, Tim, Burger, Nils, Miljkovic, Jan Lj, Minczuk, Michal, Murphy, Michael P, von Kriegsheim, Alex, Frezza, Christian
Publicado 2021

New insights into the phenotype of FARS2 deficiency

por Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Publicado 2017

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

por Van Haute, Lindsey, Lee, Song-Yi, McCann, Beverly J, Powell, Christopher A, Bansal, Dhiru, Vasiliauskaitė, Lina, Garone, Caterina, Shin, Sanghee, Kim, Jong-Seo, Frye, Michaela, Gleeson, Joseph G, Miska, Eric A, Rhee, Hyun-Woo, Minczuk, Michal
Publicado 2019

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

por Diodato, Daria, Melchionda, Laura, Haack, Tobias B, Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A, Minczuk, Michal, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2014

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

por Gammage, Payam A., Viscomi, Carlo, Simard, Marie-Lune, Costa, Ana S.H., Gaude, Edoardo, Powell, Christopher A., Van Haute, Lindsey, McCann, Beverly J., Rebelo-Guiomar, Pedro, Cerutti, Raffaele, Zhang, Lei, Rebar, Edward J., Zeviani, Massimo, Frezza, Christian, Stewart, James B., Minczuk, Michal
Publicado 2018

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 2016

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 2015