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Maintaining the Human Mitochondrial Genome

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Publications

Mitochondrial DNA replication in mammalian cells: overview of the pathway

Author(s): Maria Falkenberg
Published in: Essays In Biochemistry, 2017, Page(s) EBC20170100, ISSN 0071-1365
DOI: 10.1042/EBC20170100

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA

Author(s): Anna-Karin Berglund, Clara Navarrete, Martin K. M. Engqvist, Emily Hoberg, Zsolt Szilagyi, Robert W. Taylor, Claes M. Gustafsson, Maria Falkenberg, Anders R. Clausen
Published in: PLOS Genetics, Issue 13/2, 2017, Page(s) e1006628, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1006628

Selective mitochondrial DNA degradation following double-strand breaks

Author(s): Amandine Moretton, Frédéric Morel, Bertil Macao, Philippe Lachaume, Layal Ishak, Mathilde Lefebvre, Isabelle Garreau-Balandier, Patrick Vernet, Maria Falkenberg, Géraldine Farge
Published in: PLOS ONE, Issue 12/4, 2017, Page(s) e0176795, ISSN 1932-6203
DOI: 10.1371/journal.pone.0176795

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Author(s): Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E.S. Kauppila, Bertil Macao, Florian A. Schober, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg
Published in: Human Molecular Genetics, Issue 26/13, 2017, Page(s) 2515-2525, ISSN 0964-6906
DOI: 10.1093/hmg/ddx146

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Author(s): Bradley Peter, Christie L Waddington, Monika Oláhová, Ewen W Sommerville, Sila Hopton, Angela Pyle, Michael Champion, Monica Ohlson, Triinu Siibak, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor, Maria Falkenberg, Robert N Lightowlers
Published in: Human Molecular Genetics, Issue 27/10, 2018, Page(s) 1743-1753, ISSN 0964-6906
DOI: 10.1093/hmg/ddy080

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

Author(s): Thomas J. Nicholls, Cristina A. Nadalutti, Elisa Motori, Ewen W. Sommerville, Gráinne S. Gorman, Swaraj Basu, Emily Hoberg, Doug M. Turnbull, Patrick F. Chinnery, Nils-Göran Larsson, Erik Larsson, Maria Falkenberg, Robert W. Taylor, Jack D. Griffith, Claes M. Gustafsson
Published in: Molecular Cell, Issue 69/1, 2018, Page(s) 9-23.e6, ISSN 1097-2765
DOI: 10.1016/j.molcel.2017.11.033

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL

Author(s): Ali Al-Behadili, Jay P Uhler, Anna-Karin Berglund, Bradley Peter, Mara Doimo, Aurelio Reyes, Sjoerd Wanrooij, Massimo Zeviani, Maria Falkenberg
Published in: Nucleic Acids Research, Issue 46/18, 2018, Page(s) 9471-9483, ISSN 0305-1048
DOI: 10.1093/nar/gky708

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Author(s): Örjan Persson, Yazh Muthukumar, Swaraj Basu, Louise Jenninger, Jay P. Uhler, Anna-Karin Berglund, Robert McFarland, Robert W. Taylor, Claes M. Gustafsson, Erik Larsson, Maria Falkenberg
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-019-08673-5

Organization of DNA in Mammalian Mitochondria

Author(s): Géraldine Farge, Maria Falkenberg
Published in: International Journal of Molecular Sciences, Issue 20/11, 2019, Page(s) 2770, ISSN 1422-0067
DOI: 10.3390/ijms20112770

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

Author(s): Viktor Posse, Ali Al-Behadili, Jay P. Uhler, Anders R. Clausen, Aurelio Reyes, Massimo Zeviani, Maria Falkenberg, Claes M. Gustafsson
Published in: PLOS Genetics, Issue 15/1, 2019, Page(s) e1007781, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1007781

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

Author(s): Bradley Peter, Geraldine Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg
Published in: Human Molecular Genetics, Issue 28/7, 2018, Page(s) 1090-1099, ISSN 0964-6906
DOI: 10.1093/hmg/ddy415