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Maintaining the Human Mitochondrial Genome

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Dinucleotide Degradation by REXO2 Maintains Promoter Specificity in Mammalian Mitochondria

Author(s): Thomas J. Nicholls, Henrik Spåhr, Shan Jiang, Stefan J. Siira, Camilla Koolmeister, Sushma Sharma, Johanna H.K. Kauppila, Min Jiang, Volkhard Kaever, Oliver Rackham, Andrei Chabes, Maria Falkenberg, Aleksandra Filipovska, Nils-Göran Larsson, Claes M. Gustafsson
Published in: Molecular Cell, Issue 76/5, 2019, Page(s) 784-796.e6, ISSN 1097-2765
DOI: 10.1016/j.molcel.2019.09.010

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Author(s): Carola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Direnis Erdinc, Jay P. Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors
Published in: Neurology Genetics, Issue 6/1, 2019, Page(s) e391, ISSN 2376-7839
DOI: 10.1212/nxg.0000000000000391

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

Author(s): Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Raffaele Cerutti, Shuaifeng Li, Dieu-Hien Rozsivalova, Sebastian Valenzuela, Sukru A Dogan, Bradley Peter, Patricio Fernández-Silva, Aleksandra Trifunovic, Julien Prudent, Michal Minczuk, Laurence Bindoff, Bertil Macao, Massimo Zeviani, Maria Falkenberg, Carlo Viscomi
Published in: Nucleic Acids Research, Issue 49/9, 2021, Page(s) 5230-5248, ISSN 0305-1048
DOI: 10.1093/nar/gkab282

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease

Author(s): Bradley Peter, Maria Falkenberg
Published in: Genes, Issue 11/4, 2020, Page(s) 408, ISSN 2073-4425
DOI: 10.3390/genes11040408

Mammalian mitochondrial DNA replication and mechanisms of deletion formation

Author(s): Maria Falkenberg, Claes M. Gustafsson
Published in: Critical Reviews in Biochemistry and Molecular Biology, Issue 55/6, 2020, Page(s) 509-524, ISSN 1040-9238
DOI: 10.1080/10409238.2020.1818684

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

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy

Author(s): Niklas Darin, Triinu Siibak, Bradley Peter, Carola Hedberg-Oldfors, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Published in: Neuromuscular Disorders, Issue 31/4, 2021, Page(s) 348-358, ISSN 0960-8966
DOI: 10.1016/j.nmd.2021.01.004

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Author(s): Swaraj Basu, Xie Xie, Jay P. Uhler, Carola Hedberg-Oldfors, Dusanka Milenkovic, Olivier R. Baris, Sammy Kimoloi, Stanka Matic, James B. Stewart, Nils-Göran Larsson, Rudolf J. Wiesner, Anders Oldfors, Claes M. Gustafsson, Maria Falkenberg, Erik Larsson
Published in: PLOS Genetics, Issue 16/12, 2020, Page(s) e1009242, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1009242