The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes
Chapman, James, Ng, Yi Shiau, Nicholls, Thomas J.
Published in Life (Basel, Switzerland) (26.08.2020)
Published in Life (Basel, Switzerland) (26.08.2020)
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B, Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P, Moggio, Maurizio, Quinzii, Catarina M, DiMauro, Salvatore, Calvo, Sarah E, Mootha, Vamsi K, Klopstock, Thomas, Strom, Tim M, Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S, Prokisch, Holger
Published in Nature genetics (01.02.2013)
Published in Nature genetics (01.02.2013)
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Two type I topoisomerases maintain DNA topology in human mitochondria
Menger, Katja E, Chapman, James, Díaz-Maldonado, Héctor, Khazeem, Mushtaq M, Deen, Dasha, Erdinc, Direnis, Casement, John W, Di Leo, Valeria, Pyle, Angela, Rodríguez-Luis, Alejandro, Cowell, Ian G, Falkenberg, Maria, Austin, Caroline A, Nicholls, Thomas J
Published in Nucleic acids research (28.10.2022)
Published in Nucleic acids research (28.10.2022)
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Journal Article
Controlling the topology of mammalian mitochondrial DNA
Menger, Katja E, Rodríguez-Luis, Alejandro, Chapman, James, Nicholls, Thomas J
Published in Open biology (22.09.2021)
Published in Open biology (22.09.2021)
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Journal Article
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Haack, Tobias B., Kopajtich, Robert, Freisinger, Peter, Wieland, Thomas, Rorbach, Joanna, Nicholls, Thomas J., Baruffini, Enrico, Walther, Anett, Danhauser, Katharina, Zimmermann, Franz A., Husain, Ralf A., Schum, Jessica, Mundy, Helen, Ferrero, Ileana, Strom, Tim M., Meitinger, Thomas, Taylor, Robert W., Minczuk, Michal, Mayr, Johannes A., Prokisch, Holger
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria
Rorbach, Joanna, Nicholls, Thomas J. J., Minczuk, Michal
Published in Nucleic acids research (01.09.2011)
Published in Nucleic acids research (01.09.2011)
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Journal Article
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
Misic, Jelena, Milenkovic, Dusanka, Al-Behadili, Ali, Xie, Xie, Jiang, Min, Jiang, Shan, Filograna, Roberta, Koolmeister, Camilla, Siira, Stefan J, Jenninger, Louise, Filipovska, Aleksandra, Clausen, Anders R, Caporali, Leonardo, Valentino, Maria Lucia, La Morgia, Chiara, Carelli, Valerio, Nicholls, Thomas J, Wredenberg, Anna, Falkenberg, Maria, Larsson, Nils-Göran
Published in Nucleic acids research (26.08.2022)
Published in Nucleic acids research (26.08.2022)
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Journal Article
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
Matic, Stanka, Jiang, Min, Nicholls, Thomas J, Uhler, Jay P, Dirksen-Schwanenland, Caren, Polosa, Paola Loguercio, Simard, Marie-Lune, Li, Xinping, Atanassov, Ilian, Rackham, Oliver, Filipovska, Aleksandra, Stewart, James B, Falkenberg, Maria, Larsson, Nils-Göran, Milenkovic, Dusanka
Published in Nature communications (23.03.2018)
Published in Nature communications (23.03.2018)
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Journal Article
Mitochondrial transcript maturation and its disorders
Van Haute, Lindsey, Pearce, Sarah F., Powell, Christopher A., D’Souza, Aaron R., Nicholls, Thomas J., Minczuk, Michal
Published in Journal of inherited metabolic disease (01.07.2015)
Published in Journal of inherited metabolic disease (01.07.2015)
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Journal Article
Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila
Andreazza, Simonetta, Samstag, Colby L, Sanchez-Martinez, Alvaro, Fernandez-Vizarra, Erika, Gomez-Duran, Aurora, Lee, Juliette J, Tufi, Roberta, Hipp, Michael J, Schmidt, Elizabeth K, Nicholls, Thomas J, Gammage, Payam A, Chinnery, Patrick F, Minczuk, Michal, Pallanck, Leo J, Kennedy, Scott R, Whitworth, Alexander J
Published in Nature communications (23.07.2019)
Published in Nature communications (23.07.2019)
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Journal Article
MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome
Rorbach, Joanna, Boesch, Pierre, Gammage, Payam A, Nicholls, Thomas J J, Pearce, Sarah F, Patel, Dipali, Hauser, Andreas, Perocchi, Fabiana, Minczuk, Michal
Published in Molecular biology of the cell (01.09.2014)
Published in Molecular biology of the cell (01.09.2014)
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Journal Article
Separating and Segregating the Human Mitochondrial Genome
Nicholls, Thomas J., Gustafsson, Claes M.
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.11.2018)
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.11.2018)
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Journal Article
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA
Nicholls, Thomas J., Nadalutti, Cristina A., Motori, Elisa, Sommerville, Ewen W., Gorman, Gráinne S., Basu, Swaraj, Hoberg, Emily, Turnbull, Doug M., Chinnery, Patrick F., Larsson, Nils-Göran, Larsson, Erik, Falkenberg, Maria, Taylor, Robert W., Griffith, Jack D., Gustafsson, Claes M.
Published in Molecular cell (04.01.2018)
Published in Molecular cell (04.01.2018)
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Journal Article
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., Díaz-Maldonado, Héctor, Wei, Wei, Nicholls, Thomas J., Chinnery, Patrick F., Minczuk, Michal, Falkenberg, Maria, Gustafsson, Claes M.
Published in Molecular cell (06.10.2022)
Published in Molecular cell (06.10.2022)
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Journal Article
MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication
Uhler, Jay P, Thörn, Christian, Nicholls, Thomas J, Matic, Stanka, Milenkovic, Dusanka, Gustafsson, Claes M, Falkenberg, Maria
Published in Nucleic acids research (08.07.2016)
Published in Nucleic acids research (08.07.2016)
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