6 results on '"POWELL, CHRISTOPHER"'
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2. Global assessment of marine plastic exposure risk for oceanic birds
- Author
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Clark, Bethany L., primary, Carneiro, Ana P. B., additional, Pearmain, Elizabeth J., additional, Rouyer, Marie-Morgane, additional, Clay, Thomas A., additional, Cowger, Win, additional, Phillips, Richard A., additional, Manica, Andrea, additional, Hazin, Carolina, additional, Eriksen, Marcus, additional, González-Solís, Jacob, additional, Adams, Josh, additional, Albores-Barajas, Yuri V., additional, Alfaro-Shigueto, Joanna, additional, Alho, Maria Saldanha, additional, Araujo, Deusa Teixeira, additional, Arcos, José Manuel, additional, Arnould, John P. Y., additional, Barbosa, Nadito J. P., additional, Barbraud, Christophe, additional, Beard, Annalea M., additional, Beck, Jessie, additional, Bell, Elizabeth A., additional, Bennet, Della G., additional, Berlincourt, Maud, additional, Biscoito, Manuel, additional, Bjørnstad, Oskar K., additional, Bolton, Mark, additional, Booth Jones, Katherine A., additional, Borg, John J., additional, Bourgeois, Karen, additional, Bretagnolle, Vincent, additional, Bried, Joël, additional, Briskie, James V., additional, Brooke, M. de L., additional, Brownlie, Katherine C., additional, Bugoni, Leandro, additional, Calabrese, Licia, additional, Campioni, Letizia, additional, Carey, Mark J., additional, Carle, Ryan D., additional, Carlile, Nicholas, additional, Carreiro, Ana R., additional, Catry, Paulo, additional, Catry, Teresa, additional, Cecere, Jacopo G., additional, Ceia, Filipe R., additional, Cherel, Yves, additional, Choi, Chang-Yong, additional, Cianchetti-Benedetti, Marco, additional, Clarke, Rohan H., additional, Cleeland, Jaimie B., additional, Colodro, Valentina, additional, Congdon, Bradley C., additional, Danielsen, Jóhannis, additional, De Pascalis, Federico, additional, Deakin, Zoe, additional, Dehnhard, Nina, additional, Dell’Omo, Giacomo, additional, Delord, Karine, additional, Descamps, Sébastien, additional, Dilley, Ben J., additional, Dinis, Herculano A., additional, Dubos, Jerome, additional, Dunphy, Brendon J., additional, Emmerson, Louise M., additional, Fagundes, Ana Isabel, additional, Fayet, Annette L., additional, Felis, Jonathan J., additional, Fischer, Johannes H., additional, Freeman, Amanda N. D., additional, Fromant, Aymeric, additional, Gaibani, Giorgia, additional, García, David, additional, Gjerdrum, Carina, additional, Gomes, Ivandra Soeli Gonçalves Correia, additional, Forero, Manuela G., additional, Granadeiro, José P., additional, Grecian, W. James, additional, Grémillet, David, additional, Guilford, Tim, additional, Hallgrimsson, Gunnar Thor, additional, Halpin, Luke R., additional, Hansen, Erpur Snær, additional, Hedd, April, additional, Helberg, Morten, additional, Helgason, Halfdan H., additional, Henry, Leeann M., additional, Hereward, Hannah F. R., additional, Hernandez-Montero, Marcos, additional, Hindell, Mark A., additional, Hodum, Peter J., additional, Imperio, Simona, additional, Jaeger, Audrey, additional, Jessopp, Mark, additional, Jodice, Patrick G. R., additional, Jones, Carl G., additional, Jones, Christopher W., additional, Jónsson, Jón Einar, additional, Kane, Adam, additional, Kapelj, Sven, additional, Kim, Yuna, additional, Kirk, Holly, additional, Kolbeinsson, Yann, additional, Kraemer, Philipp L., additional, Krüger, Lucas, additional, Lago, Paulo, additional, Landers, Todd J., additional, Lavers, Jennifer L., additional, Le Corre, Matthieu, additional, Leal, Andreia, additional, Louzao, Maite, additional, Madeiros, Jeremy, additional, Magalhães, Maria, additional, Mallory, Mark L., additional, Masello, Juan F., additional, Massa, Bruno, additional, Matsumoto, Sakiko, additional, McDuie, Fiona, additional, McFarlane Tranquilla, Laura, additional, Medrano, Fernando, additional, Metzger, Benjamin J., additional, Militão, Teresa, additional, Montevecchi, William A., additional, Montone, Rosalinda C., additional, Navarro-Herrero, Leia, additional, Neves, Verónica C., additional, Nicholls, David G., additional, Nicoll, Malcolm A. C., additional, Norris, Ken, additional, Oppel, Steffen, additional, Oro, Daniel, additional, Owen, Ellie, additional, Padget, Oliver, additional, Paiva, Vítor H., additional, Pala, David, additional, Pereira, Jorge M., additional, Péron, Clara, additional, Petry, Maria V., additional, de Pina, Admilton, additional, Pina, Ariete T. Moreira, additional, Pinet, Patrick, additional, Pistorius, Pierre A., additional, Pollet, Ingrid L., additional, Porter, Benjamin J., additional, Poupart, Timothée A., additional, Powell, Christopher D. L., additional, Proaño, Carolina B., additional, Pujol-Casado, Júlia, additional, Quillfeldt, Petra, additional, Quinn, John L., additional, Raine, Andre F., additional, Raine, Helen, additional, Ramírez, Iván, additional, Ramos, Jaime A., additional, Ramos, Raül, additional, Ravache, Andreas, additional, Rayner, Matt J., additional, Reid, Timothy A., additional, Robertson, Gregory J., additional, Rocamora, Gerard J., additional, Rollinson, Dominic P., additional, Ronconi, Robert A., additional, Rotger, Andreu, additional, Rubolini, Diego, additional, Ruhomaun, Kevin, additional, Ruiz, Asunción, additional, Russell, James C., additional, Ryan, Peter G., additional, Saldanha, Sarah, additional, Sanz-Aguilar, Ana, additional, Sardà-Serra, Mariona, additional, Satgé, Yvan G., additional, Sato, Katsufumi, additional, Schäfer, Wiebke C., additional, Schoombie, Stefan, additional, Shaffer, Scott A., additional, Shah, Nirmal, additional, Shoji, Akiko, additional, Shutler, Dave, additional, Sigurðsson, Ingvar A., additional, Silva, Mónica C., additional, Small, Alison E., additional, Soldatini, Cecilia, additional, Strøm, Hallvard, additional, Surman, Christopher A., additional, Takahashi, Akinori, additional, Tatayah, Vikash R. V., additional, Taylor, Graeme A., additional, Thomas, Robert J., additional, Thompson, David R., additional, Thompson, Paul M., additional, Thórarinsson, Thorkell L., additional, Vicente-Sastre, Diego, additional, Vidal, Eric, additional, Wakefield, Ewan D., additional, Waugh, Susan M., additional, Weimerskirch, Henri, additional, Wittmer, Heiko U., additional, Yamamoto, Takashi, additional, Yoda, Ken, additional, Zavalaga, Carlos B., additional, Zino, Francis J., additional, and Dias, Maria P., additional
- Published
- 2023
- Full Text
- View/download PDF
3. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
- Author
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Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Jr., Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., and Van Hove, Johan L. K.
- Published
- 2018
- Full Text
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4. Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
- Author
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Van Haute, Lindsey, primary, Dietmann, Sabine, additional, Kremer, Laura, additional, Hussain, Shobbir, additional, Pearce, Sarah F., additional, Powell, Christopher A., additional, Rorbach, Joanna, additional, Lantaff, Rebecca, additional, Blanco, Sandra, additional, Sauer, Sascha, additional, Kotzaeridou, Urania, additional, Hoffmann, Georg F., additional, Memari, Yasin, additional, Kolb-Kokocinski, Anja, additional, Durbin, Richard, additional, Mayr, Johannes A., additional, Frye, Michaela, additional, Prokisch, Holger, additional, and Minczuk, Michal, additional
- Published
- 2016
- Full Text
- View/download PDF
5. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
- Author
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Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, and Gilberti, Micol
- Abstract
Mitochondrial protein synthesis requires charging a mitochondrial tRNA with its amino acid. Here, the authors describe pathogenic variants in the GatCAB protein complex genes required for the generation of glutaminyl-mt-tRNA
Gln , that impairs mitochondrial translation and presents with cardiomyopathy. Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln ). mt-tRNAGln is indirectly charged by a transamidation reaction involving the GatCAB aminoacyl-tRNA amidotransferase complex. Defects involving the mitochondrial protein synthesis machinery cause a broad spectrum of disorders, with often fatal outcome. Here, we describe nine patients from five families with genetic defects in a GatCAB complex subunit, including QRSL1, GATB, and GATC, each showing a lethal metabolic cardiomyopathy syndrome. Functional studies reveal combined respiratory chain enzyme deficiencies and mitochondrial dysfunction. Aminoacylation of mt-tRNAGln and mitochondrial protein translation are deficient in patients’ fibroblasts cultured in the absence of glutamine but restore in high glutamine. Lentiviral rescue experiments and modeling in S. cerevisiae homologs confirm pathogenicity. Our study completes a decade of investigations on mitochondrial aminoacylation disorders, starting with DARS2 and ending with the GatCAB complex. [ABSTRACT FROM AUTHOR]- Published
- 2018
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6. Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3.
- Author
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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, and Minczuk, Michal
- Published
- 2016
- Full Text
- View/download PDF
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