Publications Peer reviewed articles (44) Defective mitochondrial protease LonP1 can cause classical mitochondrial disease Author(s): Peter, Bradley; Waddington, Christie L; Oláhová, Monika; Sommerville, Ewen W; Hopton, Sila; Pyle, Angela; Champion, Michael; Ohlson, Monica; Siibak, Triinu; Chrzanowska-Lightowlers, Zofia M A; Taylor, Robert W; Falkenberg, Maria; Lightowlers, Robert N Published in: Human Molecular Genetics, Issue 17, 2018, Page(s) 1743-1753, ISSN 0964-6906 Publisher: Oxford University Press DOI: 10.1093/hmg/ddy080 Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation Author(s): Majda Mehmedović, Martial Martucci, Henrik Spåhr, Layal Ishak, Anup Mishra, Maria Eugenia Sanchez-Sandoval, Carlos Pardo-Hernández, Bradley Peter, Siet M van den Wildenberg, Maria Falkenberg, Geraldine Farge Published in: BBA Mol basis Dis, 2022, ISSN 0925-4439 Publisher: Elsevier BV DOI: 10.1016/j.bbadis.2022.166467 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 Publisher: Cell Press DOI: 10.1016/j.molcel.2019.09.010 Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA Author(s): Thomas J. Nicholls; Cristina A. Nadalutti; Elisa Motori; Ewen W. Sommerville; Grainne S. Gorman; Swaraj Basu; Emily Hoberg; Douglass 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 1, 2019, ISSN 1097-2765 Publisher: Cell Press DOI: 10.1016/j.molcel.2017.11.033 Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression Author(s): Meenakshi Singh; Viktor Posse; Bradley Peter; Maria Falkenberg; Claes M Gustafsson Published in: Nucleic Acids Research, Issue 1, 2022, ISSN 0305-1048 Publisher: Oxford University Press DOI: 10.1093/nar/gkab1251 Organization of DNA in Mammalian Mitochondria Author(s): Farge, Géraldine; Falkenberg, Maria Published in: International Journal of Molecular Sciences, Issue 1, 2019, ISSN 1422-0067 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/ijms20112770 Dinucleotide degradation by REXO2 maintains promoter specificity in mammalian mitochondria Author(s): Thomas J. Nicholls; Henrik Spåhr; Henrik Spåhr; Shan Jiang; Shan Jiang; Stefan J. Siira; Stefan J. Siira; Camilla Koolmeister; Camilla Koolmeister; Sushma Sharma; Johanna H.K. Kauppila; Min Jiang; Volkhard Kaever; Oliver Rackham; Oliver Rackham; Andrei Chabes; Maria Falkenberg; Aleksandra Filipovska; Aleksandra Filipovska; Nils-Göran Larsson; Nils-Göran Larsson; Claes M. Gustafsson Published in: Molecular Cell, Issue 1, 2019, ISSN 1097-2765 Publisher: Cell Press 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 Publisher: Wolter Kluwer DOI: 10.1212/nxg.0000000000000391 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 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/genes11040408 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; Olivier R. Baris; Sammy Kimoloi; Stanka Matic; James B. Stewart; James B. Stewart; Nils-Göran Larsson; Rudolf J. Wiesner; Anders Oldfors; Claes M. Gustafsson; Maria Falkenberg; Erik Larsson Published in: ISSN: 1553-7390, Issue 1, 2020, ISSN 1553-7404 Publisher: Oxford University press DOI: 10.1371/journal.pgen.1009242 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 Publisher: Oxford University Press DOI: 10.1093/nar/gkab282 Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions Author(s): Persson, Örjan; Muthukumar, Yazh; Basu, Swaraj; Jenninger, Louise; Uhler, Jay P.; Berglund, Anna-Karin; McFarland, Robert; Taylor, Robert W.; Gustafsson, Claes M.; Larsson, Erik; Falkenberg, Maria Published in: Nature Communications, Issue 2, 2019, ISSN 2041-1723 Publisher: Nature Publishing Group DOI: 10.1038/s41467-019-08673-5 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 1, 2021, ISSN 0960-8966 Publisher: Elsevier BV DOI: 10.1016/j.nmd.2021.01.004 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 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/genes11040408 Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO Author(s): Hedberg-Oldfors, Carola; Macao, Bertil; Basu, Swaraj; Lindberg, Christopher; Peter, Bradley; Erdinc, Direnis; Uhler, Jay P.; Larsson, Erik; Falkenberg, Maria; Oldfors, Anders Published in: Neurology: Genetics, Issue 1, 2019, ISSN 2376-7839 Publisher: Wolter Kluwer Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation Author(s): Majda Mehmedović, Martial Martucci, Henrik Spåhr, Layal Ishak, Anup Mishra, Maria Eugenia Sanchez-Sandoval, Carlos Pardo-Hernández, Bradley Peter, Siet M van den Wildenberg, Maria Falkenberg, Geraldine Farge Published in: BBA Mol basis Dis, 2022, ISSN 0925-4439 Publisher: Elsevier BV DOI: 10.1016/j.bbadis.2022.166467 Mitochondrial DNA replication in mammalian cells: overview of the pathway Author(s): Falkenberg, Maria Published in: Essays in Biochemistry, Issue 8, 2017, Page(s) EBC20170100, ISSN 0071-1365 Publisher: Portland Press, Ltd. DOI: 10.1042/ebc20170100 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, Oxford University Press (OUP), 2019, 28 (7), pp.1090-1099. ⟨10.1093/hmg/ddy415⟩", Issue 1, 2018, ISSN 0964-6906 Publisher: Oxford University Press DOI: 10.1093/hmg/ddy415 A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL. Author(s): Al-Behadili, Ali; Uhler, Jay P; Berglund, Anna-Karin; Peter, Bradley; Doimo, Mara; Reyes, Aurelio; Wanrooij, Sjoerd; Zeviani, Massimo; Falkenberg, Maria Published in: Nucleic Acids Research, Issue 1, 2018, ISSN 0305-1048 Publisher: Oxford University Press DOI: 10.17863/cam.32428 The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication. Author(s): Min Jiang; Min Jiang; Xie Xie; Xuefeng Zhu; Shan Jiang; Dusanka Milenkovic; Jelena Misic; Yonghong Shi; Nirwan Tandukar; Xinping Li; Ilian Atanassov; Louise Jenninger; Emily Hoberg; Sara Albarran-Gutierrez; Zsolt Szilagyi; Bertil Macao; Stefan J. Siira; Stefan J. Siira; Valerio Carelli; Jack D. Griffith; Claes M. Gustafsson; Thomas J. Nicholls; Aleksandra Filipovska; Aleksandra Filipovska; Nils-G Published in: The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication, Issue 2, 2021, ISSN 2375-2548 Publisher: the American Association for the Advancement of Science DOI: 10.1126/sciadv.abf8631 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 Publisher: Taylor & Francis DOI: 10.1080/10409238.2020.1818684 Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization Author(s): Xuefeng Zhu, Xie Xie, Hrishikesh Das, Benedict G Tan, Yonghong Shi, Ali Al-Behadili, Bradley Peter, Elisa Motori, Sebastian Valenzuela, Viktor Posse, Claes M Gustafsson, B Martin Hällberg, Maria Falkenberg Published in: Cell, 2022, ISSN 0092-8674 Publisher: Cell Press DOI: 10.1016/j.cell.2022.05.006 Selective mitochondrial DNA degradation following double-strand breaks. Author(s): Moretton, Amandine; Morel, Frédéric; Macao, Bertil; Lachaume, Philippe; Ishak, Layal; Lefebvre, Mathilde; Garreau-Balandier, Isabelle; Vernet, Patrick; Falkenberg, Maria; Farge, Géraldine Published in: PLoS ONE, Issue 2, 2017, ISSN 1932-6203 Publisher: Public Library of Science 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): Siibak, Triinu; Clemente, Paula; Bratic, Ana; Bruhn, Helene; Kauppila, Timo E.S.; Macao, Bertil; Schober, Florian A.; Lesko, Nicole; Wibom, Rolf; Naess, Karin; Nennesmo, Inger; Wedell, Anna; Peter, Bradley; Freyer, Christoph; Falkenberg, Maria; Wredenberg, Anna Published in: Human Molecular Genetics, Issue 1, 2017, ISSN 0964-6906 Publisher: Oxford University Press 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 Publisher: Portland Press, Ltd. 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 Publisher: PLoS Genet. 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 Publisher: Public Library of Science 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 Publisher: Oxford University Press 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 Publisher: Oxford University Press 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 Publisher: Cell Press 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 Publisher: Oxford University Press 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 Publisher: Nature Publishing Group 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 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) 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 Publisher: Plos genet 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 Publisher: Oxford University Press 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 Publisher: Elsevier BV DOI: 10.1016/j.nmd.2021.01.004 Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression Author(s): Meenakshi Singh; Viktor Posse; Bradley Peter; Maria Falkenberg; Claes M Gustafsson Published in: Nucleic Acids Research, Issue 1, 2022, ISSN 0305-1048 Publisher: Oxford University Press DOI: 10.1093/nar/gkab1251 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 1, 2020, ISSN 1040-9238 Publisher: Taylor & Francis DOI: 10.1080/10409238.2020.1818684 RNase H1 directs origin-specific initiation of DNA replication in human mitochondria. Author(s): Posse, Viktor; Al-Behadili, Ali; Uhler, Jay P.; Clausen, Anders R.; Reyes, Aurelio; Zeviani, Massimo; Falkenberg, Maria; Gustafsson, Claes M. Published in: PLoS Genetics, Issue 1, 2019, ISSN 1553-7404 Publisher: Plos genet DOI: 10.17863/cam.36028 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 Publisher: Oxford University press DOI: 10.1371/journal.pgen.1009242 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 Anil Dogan; Bradley Peter; Patricio Fernández-Silva; Aleksandra Trifunovic; Julien Prudent; Michal Minczuk; Laurence A. Bindoff; Bertil Macao; Massimo Zeviani; Maria Falkenberg; Carlo Viscomi Published in: essn: 1362-4962, Issue 1, 2021, ISSN 0305-1048 Publisher: Oxford University Press DOI: 10.1093/nar/gkab282 Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA Author(s): Berglund, Anna-Karin; Navarrete, Clara; Engqvist, Martin K. M.; Hoberg, Emily; Szilagyi, Zsolt; Taylor, Robert W.; Gustafsson, Claes M.; Falkenberg, Maria; Clausen, Anders R. Published in: PLoS Genetics, Issue 1, 2017, ISSN 1553-7404 Publisher: PLoS Genet. Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization Author(s): Xuefeng Zhu, Xie Xie, Hrishikesh Das, Benedict G Tan, Yonghong Shi, Ali Al-Behadili, Bradley Peter, Elisa Motori, Sebastian Valenzuela, Viktor Posse, Claes M Gustafsson, B Martin Hällberg, Maria Falkenberg Published in: Cell, 2022, ISSN 0092-8674 Publisher: Cell Press DOI: 10.1016/j.cell.2022.05.006 The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication. Author(s): Min Jiang; Min Jiang; Xie Xie; Xuefeng Zhu; Shan Jiang; Dusanka Milenkovic; Jelena Misic; Yonghong Shi; Nirwan Tandukar; Xinping Li; Ilian Atanassov; Louise Jenninger; Emily Hoberg; Sara Albarran-Gutierrez; Zsolt Szilagyi; Bertil Macao; Stefan J. Siira; Stefan J. Siira; Valerio Carelli; Jack D. Griffith; Claes M. Gustafsson; Thomas J. Nicholls; Aleksandra Filipovska; Aleksandra Filipovska; Nils-G Published in: The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication, Issue 1, 2021, ISSN 2375-2548 Publisher: the American Association for the Advancement of Science DOI: 10.1126/sciadv.abf8631 Searching for OpenAIRE data... There was an error trying to search data from OpenAIRE No results available
