检索结果 - Christopher A. Powell
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METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis 由 Lindsey Van Haute, Alan G. Hendrick, Aaron R. D’Souza, Christopher A. Powell, Pedro Rebelo‐Guiomar, Michael E. Harbour, Shujing Ding, Ian M. Fearnley, Byron Andrews, Michal Minczuk
出版 2019Artigo -
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Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture 由 P. Nash, Keira Turner, Christopher A. Powell, Lindsey Van Haute, Pedro Silva-Pinheiro, Felix Bubeck, Ellen Wiedtke, Eloïse Marques, Dylan G. Ryan, Dirk Grimm, Payam A. Gammage, Michal Minczuk
出版 2025Artigo -
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The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules 由 Sofia Zaganelli, Pedro Rebelo‐Guiomar, Kinsey Maundrell, Agata Rozanska, Sandra Pierredon, Christopher A. Powell, Alexis A. Jourdain, Nicolas Hulo, Robert N. Lightowlers, Zofia M. Chrzanowska‐Lightowlers, Michal Minczuk, Jean‐Claude Martinou
出版 2017Artigo -
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Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs 由 Eva Schöller, James Marks, Virginie Marchand, Astrid Bruckmann, Christopher A. Powell, Markus Reichold, Christian D. Mutti, Katja Dettmer, Regina Feederle, Stefan Hüttelmaier, Mark Helm, Peter J. Oefner, Michal Minczuk, Yuri Motorin, Markus Hafner, Gunter Meister
出版 2021Artigo -
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Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>) 由 Arnaud Vanlander, Björn Menten, Joél Smet, Linda De Meırleır, Tom Sante, Boél De Paepe, Sara Seneca, Sarah F. Pearce, Christopher A. Powell, Sarah Vergult, Alex Michotte, Elien De Latter, Lies Vantomme, Michal Minczuk, Rudy Van Coster
出版 2014Artigo -
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TRNT1 deficiency: clinical, biochemical and molecular genetic features 由 Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah F. Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W.K. Chong, Emma Footitt, Philippa B. Mills, Jan‐Willem Taanman, Michal Minczuk, Peter T. Clayton, Shamima Rahman
出版 2016Artigo -
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Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism 由 Dylan G. Ryan, Ming Yang, Hiran A. Prag, Giovanny Rodriguez Blanco, Efterpi Nikitopoulou, Marc Segarra‐Mondejar, Christopher A. Powell, Tim Young, Nils Burger, Jan Lj. Miljković, Michal Minczuk, Michael P. Murphy, Alex von Kriegsheim, Christian Frezza
出版 2021Artigo -
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NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs 由 Lindsey Van Haute, Song-Yi Lee, Beverly J. McCann, Christopher A. Powell, Dhiru Bansal, Lina Vasiliauskaitė, Caterina Garone, Sanghee Shin, Jong‐Seo Kim, Michaela Frye, Joseph G. Gleeson, Eric A. Miska, Hyun‐Woo Rhee, Michal Minczuk
出版 2019Artigo -
18
New insights into the phenotype of FARS2 deficiency 由 Elise Vantroys, Austin Larson, Marisa W. Friederich, Kaz M. Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boél De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster
出版 2017Artigo -
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder 由 Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh
出版 2015Artigo -
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<i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies 由 Daria Diodato, Laura Melchionda, Tobias B. Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A. Powell, Michal Minczuk, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi
出版 2014Artigo
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