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Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization 扩大对 Leigh 综合征的研究与护理：一个患者主导的倡导组织的努力 Zilber, Sophia; Burnworth, Melinda; Afolabi, Titilola; Brestoff, Jonathan R.; Minczuk, Michal; Luis, Alejandro Rodriguez; Ling, Qinglan; Prigione, Alessandro; Tolle, Isabella; Elsharkawi, Ibrahim; Perlstein, Ethan; Boyce, Danielle; Johnson, Simon; Woleben, Kasey 分享 收藏
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity 建立POLG基因突变的小鼠模型揭示了POLγΒ在调控表型严重程度中的关键作用 Corra, Samantha; Zuppardo, Alessandro; Valenzuela, Sebastian; Jenninger, Louise; Cerutti, Raffaele; Sillamaa, Sirelin; Hoberg, Emily; Johansson, Katarina A. S.; Rovsnik, Urska; Volta, Sara; Silva-Pinheiro, Pedro; Davis, Hannah; Trifunovic, Aleksandra; Minczuk, Michal; Gustafsson, Claes M.; Suomalainen, Anu; Zeviani, Massimo; Macao, Bertil; Zhu, Xuefeng; Falkenberg, Maria; Viscomi, Carlo 分享 收藏
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal 分享 收藏
GTPBP8 plays a role in mitoribosome formation in human mitochondria Cipullo, Miriam; Gese, Genis Valentin; Gopalakrishna, Shreekara; Krueger, Annika; Lobo, Vivian; Pirozhkova, Maria A.; Marks, James; Palenikova, Petra; Shiriaev, Dmitrii; Liu, Yong; Misic, Jelena; Cai, Yu; Nguyen, Minh Duc; Abdelbagi, Abubakar; Li, Xinping; Minczuk, Michal; Hafner, Markus; Benhalevy, Daniel; Sarshad, Aishe A.; Atanassov, Ilian; Hallberg, B. Martin; Rorbach, Joanna 分享 收藏
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Van Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita 分享 收藏
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The human mitochondrial genome contains a second light strand promoter Tan, Benedict G.; Mutti, Christian D.; Shi, Yonghong; Xie, Xie; Zhu, Xuefeng; Silva-Pinheiro, Pedro; Menger, Katja E.; Diaz-Maldonado, Hector; Wei, Wei; Nicholls, Thomas J.; Chinnery, Patrick F.; Minczuk, Michal; Falkenberg, Maria; Gustafsson, Claes M. 分享 收藏
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit Rebelo-Guiomar, Pedro; Pellegrino, Simone; Dent, Kyle C.; Sas-Chen, Aldema; Miller-Fleming, Leonor; Garone, Caterina; Van Haute, Lindsey; Rogan, Jack F.; Dinan, Adam; Firth, Andrew E.; Andrews, Byron; Whitworth, Alexander J.; Schwartz, Schraga; Warren, Alan J.; Minczuk, Michal 分享 收藏
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Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism 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 分享 收藏
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Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs Scholler, Eva; Marks, James; Marchand, Virginie; Bruckmann, Astrid; Powell, Christopher A.; Reichold, Markus; Mutti, Christian Daniel; Dettmer, Katja; Feederle, Regina; Huttelmaier, Stefan; Helm, Mark; Oefner, Peter; Minczuk, Michal; Motorin, Yuri; Hafner, Markus; Meister, Gunter 分享 收藏
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