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

af Powell, Christopher A., Minczuk, Michal
Udgivet i RNA Biol (2020)

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

af Powell, Christopher A., Nicholls, Thomas J., Minczuk, Michal
Udgivet i Front Genet (2015)

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

af Van Haute, Lindsey, Powell, Christopher A., Minczuk, Michal
Udgivet i Biomolecules (2017)

The mammalian mitochondrial epitranscriptome()

af Rebelo-Guiomar, Pedro, Powell, Christopher A., Van Haute, Lindsey, Minczuk, Michal
Udgivet i Biochim Biophys Acta Gene Regul Mech (2019)

Mitochondrial transcript maturation and its disorders

af Van Haute, Lindsey, Pearce, Sarah F., Powell, Christopher A., D’Souza, Aaron R., Nicholls, Thomas J., Minczuk, Michal
Udgivet i J Inherit Metab Dis (2015)

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

af Pearce, Sarah F., Rebelo-Guiomar, Pedro, D’Souza, Aaron R., Powell, Christopher A., Van Haute, Lindsey, Minczuk, Michal
Udgivet i Trends Biochem Sci (2017)

Human mitochondrial ribosomes can switch their structural RNA composition

af Rorbach, Joanna, Gao, Fei, Powell, Christopher A., D’Souza, Aaron, Lightowlers, Robert N., Minczuk, Michal, Chrzanowska-Lightowlers, Zofia M.
Udgivet i Proc Natl Acad Sci U S A (2016)

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

af D’Souza, Aaron R, Van Haute, Lindsey, Powell, Christopher A, Mutti, Christian D, Páleníková, Petra, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Minczuk, Michal
Udgivet i Nucleic Acids Res (2021)

Maturation of selected human mitochondrial tRNAs requires deadenylation

af 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
Udgivet i eLife (2017)

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

af 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
Udgivet i Nucleic Acids Res (2019)

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

af 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
Udgivet i J Biol Chem (2017)

TRNT1 deficiency: clinical, biochemical and molecular genetic features

af 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
Udgivet i Orphanet J Rare Dis (2016)

New insights into the phenotype of FARS2 deficiency

af 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
Udgivet i Mol Genet Metab (2017)

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

af 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
Udgivet i Nucleic Acids Res (2019)

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

af 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
Udgivet 2014

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

af 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
Udgivet i Nat Med (2018)

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

af 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
Udgivet i Nat Commun (2016)

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

af 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
Udgivet i Am J Hum Genet (2015)

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

af de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga
Udgivet i Am J Hum Genet (2018)

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

af Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope E., Bratkovic, Drago, Carrozzo, Rosalba, Donati, Maria A., Di Nottia, Michela, Ghezzi, Daniele, Goldstein, Amy, Haan, Eric, Horvath, Rita, Hughes, Joanne, Invernizzi, Federica, Lamantea, Eleonora, Lucas, Benjamin, Pinnock, Kyla‐Gaye, Pujantell, Maria, Rahman, Shamima, Rebelo‐Guiomar, Pedro, Santra, Saikat, Verrigni, Daniela, McFarland, Robert, Prokisch, Holger, Taylor, Robert W., Levinger, Louis, Minczuk, Michal
Udgivet i Hum Mutat (2019)