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1Academic Journal
Authors: Christian D. Mutti, Lindsey Van Haute, Michal Minczuk
Source: RNA Biology, Vol 21, Iss 1, Pp 687-694 (2024)
Subject Terms: Mitochondrial ribosome, epitranscriptomics, methyltransferase, chaperone, mitochondria, ribosomal RNA, Genetics, QH426-470
File Description: electronic resource
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2Academic Journal
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Authors: Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk
Source: EMBO Molecular Medicine, Vol 17, Iss 1, Pp 193-210 (2024)
Subject Terms: Exome Sequencing, Lactic Acidosis, Mitochondrial Disease, RNA Processing, tRNA, Medicine (General), R5-920, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1757-4684
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3Academic Journal
Authors: Miriam Cipullo, Genís Valentín Gesé, Shreekara Gopalakrishna, Annika Krueger, Vivian Lobo, Maria A. Pirozhkova, James Marks, Petra Páleníková, Dmitrii Shiriaev, Yong Liu, Jelena Misic, Yu Cai, Minh Duc Nguyen, Abubakar Abdelbagi, Xinping Li, Michal Minczuk, Markus Hafner, Daniel Benhalevy, Aishe A. Sarshad, Ilian Atanassov, B. Martin Hällberg, Joanna Rorbach
Source: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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4Academic Journal
Authors: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
Source: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Subject Terms: CARS2, mitochondrial disorders, neurodevelopmental disorder, tRNA synthetases, whole‐exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/2192-8312
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5Academic Journal
Authors: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Source: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6Academic Journal
Authors: Petra Páleníková, Michal Minczuk, Pedro Rebelo-Guiomar
Source: STAR Protocols, Vol 4, Iss 4, Pp 102605- (2023)
Subject Terms: Bioinformatics, Proteomics, Protein Expression and Purification, Science (General), Q1-390
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2666166723005725; https://doaj.org/toc/2666-1667
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7Academic Journal
Source: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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8Academic Journal
Authors: Pedro Rebelo-Guiomar, Simone Pellegrino, Kyle C. Dent, Aldema Sas-Chen, Leonor Miller-Fleming, Caterina Garone, Lindsey Van Haute, Jack F. Rogan, Adam Dinan, Andrew E. Firth, Byron Andrews, Alexander J. Whitworth, Schraga Schwartz, Alan J. Warren, Michal Minczuk
Source: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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9Academic Journal
Authors: Pedro Silva-Pinheiro, Pavel A. Nash, Lindsey Van Haute, Christian D. Mutti, Keira Turner, Michal Minczuk
Source: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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10Academic Journal
Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism
Authors: Dylan Gerard Ryan, Ming Yang, Hiran A Prag, Giovanny Rodriguez Blanco, Efterpi Nikitopoulou, Marc Segarra-Mondejar, Christopher A Powell, Tim Young, Nils Burger, Jan Lj Miljkovic, Michal Minczuk, Michael P Murphy, Alex von Kriegsheim, Christian Frezza
Source: eLife, Vol 10 (2021)
Subject Terms: TCA cycle, mitochondria, metabolism, metabolomics, Medicine, Science, Biology (General), QH301-705.5
File Description: electronic resource
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11Academic Journal
Authors: Akira Ohkubo, Lindsey Van Haute, Danielle L Rudler, Maike Stentenbach, Florian A Steiner, Oliver Rackham, Michal Minczuk, Aleksandra Filipovska, Jean-Claude Martinou
Source: PLoS Genetics, Vol 17, Iss 11, p e1009873 (2021)
File Description: electronic resource
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12Academic Journal
Authors: Simonetta Andreazza, Colby L. Samstag, Alvaro Sanchez-Martinez, Erika Fernandez-Vizarra, Aurora Gomez-Duran, Juliette J. Lee, Roberta Tufi, Michael J. Hipp, Elizabeth K. Schmidt, Thomas J. Nicholls, Payam A. Gammage, Patrick F. Chinnery, Michal Minczuk, Leo J. Pallanck, Scott R. Kennedy, Alexander J. Whitworth
Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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13Academic Journal
Authors: Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco, Romina Oliva, Erika Fernandez-Vizarra, Federica Morani, Giulia Trani, Teresa Rizza, Daniele Ghezzi, Anna Ardissone, Claudia Nesti, Gessica Vasco, Massimo Zeviani, Michal Minczuk, Enrico Bertini, Filippo Maria Santorelli, Rosalba Carrozzo
Source: Neurobiology of Disease, Vol 141, Iss , Pp 104880- (2020)
Subject Terms: Mitochondrial disorders, Movement disorder, MRPL24, Mitoribosomes, Mitochondrial protein synthesis, Zebrafish, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0969996120301558; https://doaj.org/toc/1095-953X
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14Academic Journal
Authors: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Source: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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15Academic Journal
Authors: Viktoriya Peeva, Daniel Blei, Genevieve Trombly, Sarah Corsi, Maciej J. Szukszto, Pedro Rebelo-Guiomar, Payam A. Gammage, Alexei P. Kudin, Christian Becker, Janine Altmüller, Michal Minczuk, Gábor Zsurka, Wolfram S. Kunz
Source: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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16Academic Journal
Authors: Matthew Baxter, Maria Voronkov, Toryn Poolman, Gina Galli, Christian Pinali, Laurence Goosey, Abigail Knight, Karolina Krakowiak, Robert Maidstone, Mudassar Iqbal, Min Zi, Sukhpal Prehar, Elizabeth J Cartwright, Julie Gibbs, Laura C Matthews, Antony D Adamson, Neil E Humphreys, Pedro Rebelo-Guiomar, Michal Minczuk, David A Bechtold, Andrew Loudon, David Ray
Source: eLife, Vol 9 (2020)
Subject Terms: mitochondria, protein translation, cardiac, ribosome, Medicine, Science, Biology (General), QH301-705.5
File Description: electronic resource
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17Academic Journal
Authors: Hanne Hoitzing, Payam A Gammage, Lindsey Van Haute, Michal Minczuk, Iain G Johnston, Nick S Jones
Source: PLoS Computational Biology, Vol 15, Iss 6, p e1007023 (2019)
Subject Terms: Biology (General), QH301-705.5
File Description: electronic resource
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18Academic Journal
Authors: Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Source: Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Subject Terms: Science
File Description: electronic resource
Relation: https://doaj.org/toc/2041-1723
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19Academic Journal
Authors: Sarah F Pearce, Joanna Rorbach, Lindsey Van Haute, Aaron R D’Souza, Pedro Rebelo-Guiomar, Christopher A Powell, Ian Brierley, Andrew E Firth, Michal Minczuk
Source: eLife, Vol 6 (2017)
Subject Terms: mitochondria, mitochondrial RNA, mitoribosome, polyadenylation, mtPAP, ribosome profiling, Medicine, Science, Biology (General), QH301-705.5
File Description: electronic resource
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20Academic Journal
Source: EMBO Molecular Medicine, Vol 6, Iss 4, Pp 458-466 (2014)
Subject Terms: gene therapy, heteroplasmy, mitochondrial disease, zinc finger nuclease, Medicine (General), R5-920, Genetics, QH426-470
File Description: electronic resource