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Maria Falkenberg
Professor
Department of Medical Biochemistry and Cell biology-
Proteolytic cleavage activates the mitochondrial isoform of
TOP3A
Direnis Erdinc, Christin A. Albus, Alejandro Rodriguez-Luis, Katja E. Menger, Annika Thorsell, Ilian Atanassov, Urska Rovsnik, Maria Falkenberg, Claes Gustafsson, Thomas J. J. Nicholls
NUCLEIC ACIDS RESEARCH - 2025 -
Ribonucleotide incorporation into mitochondrial DNA drives
inflammation
Amir Bahat, Dusanka Milenkovic, Eileen Cors, Mabel Barnett, Sadig Niftullayev, Athanasios Katsalifis, Marc Schwill, Petra Kirschner, Thomas Macvicar, Patrick Giavalisco, Louise Jenninger, Anders Ranegaard Clausen, Vincent Paupe, Julien Prudent, Nils-Goran Larsson, Manuel Rogg, Christoph Schell, Isabella Muylaert, Erik Lekholm, Hendrik Nolte, Maria Falkenberg, Thomas Langer
NATURE - 2025 -
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic
severity
Samantha Corra, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Sirelin Sillamaa, Emily Hoberg, Katarina Johansson, Urska Rovsnik, Sara Volta, Pedro Silva-Pinheiro, Hannah Davis, Aleksandra Trifunovic, Michal Minczuk, Claes M Gustafsson, Anu Suomalainen, Massimo Zeviani, Bertil Macao, Xuefeng Zhu, Maria Falkenberg, Carlo Viscomi
NATURE COMMUNICATIONS - 2025 -
Small molecules restore mutant mitochondrial DNA polymerase
activity
Sebastian Valenzuela, Xuefeng Zhu, Bertil Macao, Mattias Stamgren, Carol Geukens, Paul S. Charifson, Gunther Kern, Emily Hoberg, Louise Jenninger, Anja V. Gruszczyk, Seoeun Lee, Katarina Johansson, Javier Miralles Fuste, Yonghong Shi, S. Jordan Kerns, Laleh Arabanian, Gabriel Martinez Botella, Sofie Ekstroem, Jeremy Green, Andrew M. Griffin, Carlos Pardo-Hernandez, Thomas A. Keating, Barbara Kuppers-Munther, Nils-Goran Larsson, Cindy Phan, Viktor Posse, Juli E. Jones, Xie Xie, Simon Giroux, Claes M Gustafsson, Maria Falkenberg
NATURE - 2025 -
Mechanistic basis of atypical TERT promoter
mutations.
Kerryn Elliott, Vinod Kumar Singh, Alan Bäckerholm, Linnea Ögren, Markus Lindberg, Katarzyna M Soczek, Emily Hoberg, Tom Luijts, Jimmy Van den Eynden, Maria Falkenberg, Jennifer Doudna, Anders Ståhlberg, Erik Lekholm
Nature Communications - 2024 -
The mutation R107Q alters mtSSB ssDNA compaction ability and binding
dynamics
Martial Martucci, Amandine Moretton, Aleix Tarres-Sole, Virginie Ropars, Louise Lambert, Patrick Vernet, Maria Sola, Maria Falkenberg, Geraldine Farge, Siet van den Wildenberg
NUCLEIC ACIDS RESEARCH - 2024 -
Replication and Transcription of Human Mitochondrial
DNA
Maria Falkenberg, Nils-Goran Larsson, Claes M Gustafsson
ANNUAL REVIEW OF BIOCHEMISTRY - 2024 -
Mechanisms and regulation of human mitochondrial
transcription
B. G. Tan, Claes M Gustafsson, Maria Falkenberg
Nature Reviews Molecular Cell Biology - 2024 -
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POL?-related
diseases
Direnis Erdinc, Bertil Macao, Sebastian Valenzuela, N. Lesko, K. Naess, Bradley Peter, H. Bruhn, A. Wedell, A. Wredenberg, Maria Falkenberg
Biochimica Et Biophysica Acta-Molecular Basis of Disease - 2023 -
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome
stability
Direnis Erdinc, A. Rodriguez-Luis, M. R. Fassad, S. Mackenzie, C. M. Watson, Sebastian Valenzuela, Xie Xie, K. E. Menger, K. Sergeant, K. Craig, S. Hopton, G. Falkous, J. Poulton, H. Garcia-Moreno, P. Giunti, C. A. D. Aschoff, J. A. M. Saute, A. J. Kirby, C. Toro, L. Wolfe, D. Novacic, L. Greenbaum, A. Eliyahu, O. Barel, Y. Anikster, R. McFarland, G. S. Gorman, A. M. Schaefer, Claes M Gustafsson, R. W. Taylor, Maria Falkenberg, T. J. Nicholls
Embo Molecular Medicine - 2023 -
Cell lineage-specific mitochondrial resilience during mammalian
organogenesis
S. P. Burr, F. Klimm, A. Glynos, M. Prater, P. Sendon, P. Nash, C. A. Powell, M. L. Simard, N. A. Bonekamp, J. Charl, Hector Diaz-Maldonado, L. V. Bozhilova, Y. Nie, H. X. Zhang, M. Frison, Maria Falkenberg, N. Jones, M. Minczuk, J. B. Stewart, P. F. Chinnery
Cell - 2023 -
In Vitro Assays of TWINKLE
Function.
Jay P Uhler, Ulrika Alexandersson, Maria Falkenberg
Methods in molecular biology (Clifton, N.J.) - 2023 -
Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription
initiation
Majda Mehmedovic, M. Martucci, H. Spahr, Layal Ishak, Anup Mishra, Maria E. Sánchez-Sandoval, Carlos Pardo-Hernandez, Bradley Peter, S. M. van den Wildenberg, Maria Falkenberg, G. Farge
Biochimica Et Biophysica Acta-Molecular Basis of Disease - 2022 -
Two type I topoisomerases maintain DNA topology in human
mitochondria
K. E. Menger, J. Chapman, Hector Diaz-Maldonado, M. M. Khazeem, D. Deen, Direnis Erdinc, J. W. Casement, V. Di Leo, A. Pyle, A. Rodriguez-Luis, I. G. Cowell, Maria Falkenberg, C. A. Austin, T. J. Nicholls
Nucleic Acids Research - 2022 -
Article Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase
dimerization
Xuefeng Zhu, Xie Xie, H. Das, Benedict Tan, Yonghong Shi, Ali Al-Behadili, Bradley Peter, E. Motori, Sebastian Valenzuela, Viktor Posse, Claes M Gustafsson, B. M. Hallberg, Maria Falkenberg
Cell - 2022 -
Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase
progression
Meenakshi Singh, Viktor Posse, Bradley Peter, Maria Falkenberg, Claes M Gustafsson
Nucleic Acids Research - 2022 -
The human mitochondrial genome contains a second light strand
promoter
Benedict Tan, C. D. Mutti, Yonghong Shi, Xie Xie, Xuefeng Zhu, P. Silva-Pinheiro, K. E. Menger, Hector Diaz-Maldonado, W. Wei, T. J. Nicholls, P. F. Chinnery, M. Minczuk, Maria Falkenberg, Claes M Gustafsson
Molecular Cell - 2022 -
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective
Study
M. Percetti, G. Franco, E. Monfrini, L. Caporali, R. Minardi, C. La Morgia, M. L. Valentino, R. Liguori, I. Palmieri, D. Ottaviani, M. Vizziello, D. Ronchi, F. Di Berardino, A. Cocco, Bertil Macao, Maria Falkenberg, G. P. Comi, A. Albanese, B. Giometto, E. M. Valente, V. Carelli, A. Di Fonzo
Movement Disorders - 2022 -
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication
completion
J. Misic, D. Milenkovic, Ali Al-Behadili, Xie Xie, M. Jiang, S. Jiang, R. Filograna, C. Koolmeister, S. J. Siira, Louise Jenninger, A. Filipovska, Anders R Clausen, L. Caporali, M. L. Valentino, C. La Morgia, V. Carelli, T. J. Nicholls, A. Wredenberg, Maria Falkenberg, N. G. Larsson
Nucleic Acids Research - 2022 -
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA
replication
M. Jiang, Xie Xie, Xuefeng Zhu, S. Jiang, D. Milenkovic, J. Misic, Yonghong Shi, N. Tandukar, X. Li, I. Atanassov, Louise Jenninger, Emily Hoberg, S. Albarran-Gutierrez, Zsolt Szilagyi, Bertil Macao, S. J. Siira, V. Carelli, J. D. Griffith, Claes M Gustafsson, T. J. Nicholls, A. Filipovska, N. G. Larsson, Maria Falkenberg
Science Advances - 2021 -
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit
depletion
P. Silva-Pinheiro, Carlos Pardo-Hernandez, A. Reyes, L. Tilokani, Anup Mishra, R. Cerutti, S. F. Li, D. H. Rozsivalova, Sebastian Valenzuela, S. A. Dogan, Bradley Peter, P. Fernandez-Silva, A. Trifunovic, J. Prudent, M. Minczuk, L. Bindoff, Bertil Macao, M. Zeviani, Maria Falkenberg, C. Viscomi
Nucleic Acids Research - 2021 -
Functional analysis of a novel POL gamma A mutation associated with a severe perinatal mitochondrial
encephalomyopathy
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Oldfors Hedberg, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Neuromuscular Disorders - 2021 -
POLRMT mutations impair mitochondrial transcription causing neurological
disease
M. Olahova, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, E. W. Sommerville, E. L. Blakely, J. J. Collier, Emily Hoberg, V. Stranecky, H. Hartmannova, A. J. Bleyer, K. L. McBride, S. A. Bowden, Z. Korandova, A. Pecinova, H. H. Ropers, K. Kahrizi, H. Najmabadi, M. A. Tarnopolsky, L. I. Brady, K. N. Weaver, C. E. Prada, K. Ounap, M. H. Wojcik, S. Pajusalu, S. B. Syeda, L. Pais, E. A. Estrella, C. C. Bruels, L. M. Kunkel, P. B. Kang, P. E. Bonnen, T. Mracek, S. Kmoch, G. S. Gorman, Maria Falkenberg, Claes M Gustafsson, R. W. Taylor
Nature Communications - 2021 -
Mitochondrial DNA variants in inclusion body myositis characterized by deep
sequencing
Carola Oldfors Hedberg, Ulrika Lindgren, Swaraj Basu, Kittichate Visuttijai, Christopher Lindberg, Maria Falkenberg, Erik Larsson Lekholm, Anders Oldfors
Brain Pathology - 2021 -
In Vitro Analysis of mtDNA
Replication
Jay (Jennifer) Uhler, Maria Falkenberg
Mitochondrial Gene Expression - 2021 -
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with
arPEO.
Carola Oldfors Hedberg, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Jay (Jennifer) Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors
Neurology. Genetics - 2020 -
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy
disorder
V. Del Dotto, F. Ullah, I. Di Meo, P. Magini, M. Gusic, A. Maresca, L. Caporali, F. Palombo, F. Tagliavini, E. H. Baugh, Bertil Macao, Zsolt Szilagyi, C. Peron, M. A. Gustafson, K. Khan, C. La Morgia, P. Barboni, M. Carbonelli, M. L. Valentino, R. Liguori, V. Shashi, J. Sullivan, S. Nagaraj, M. El-Dairi, A. Iannaccone, I. Cutcutache, E. Bertini, R. Carrozzo, F. Emma, F. Diomedi-Camassei, C. Zanna, M. Armstrong, M. Page, N. Stong, S. Boesch, R. Kopajtich, S. Wortmann, W. Sperl, E. E. Davis, W. C. Copeland, M. Seri, Maria Falkenberg, H. Prokisch, N. Katsanis, V. Tiranti, T. Pippucci, V. Carelli
Journal of Clinical Investigation - 2020 -
Mammalian mitochondrial DNA replication and mechanisms of deletion
formation
Maria Falkenberg, Claes M Gustafsson
Critical Reviews in Biochemistry and Molecular Biology - 2020 -
Small-molecule inhibitors of human mitochondrial DNA
transcription
N. A. Bonekamp, Bradley Peter, H. S. Hillen, A. Felser, T. Bergbrede, A. Choidas, M. Horn, A. Unger, R. Di Lucrezia, I. Atanassov, X. P. Li, U. Koch, S. Menninger, J. Boros, P. Habenberger, P. Giavalisco, P. Cramer, M. S. Denzel, P. Nussbaumer, B. Klebl, Maria Falkenberg, Claes M Gustafsson, N. G. Larsson
Nature - 2020 -
Accurate mapping of mitochondrial DNA deletions and duplications using deep
sequencing
Swaraj Basu, Xie Xie, Jay (Jennifer) Uhler, Carola Oldfors Hedberg, D. Milenkovic, O. R. Baris, S. Kimoloi, S. Matic, J. B. Stewart, N. G. Larsson, R. J. Wiesner, Anders Oldfors, Claes M Gustafsson, Maria Falkenberg, Erik Larsson
PLoS Genetics - 2020 -
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and
Disease.
Bradley Peter, Maria Falkenberg
Genes - 2020 -
Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE
helicase
Bradley Peter, G. Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg
Human molecular genetics - 2020 -
Dinucleotide Degradation by REXO2 Maintains Promoter Specificity in Mammalian
Mitochondria
Thomas J. Nicholls, H. Spahr, S. Jiang, S. J. Siira, C. Koolmeister, S. Sharma, J. H. K. Kauppila, M. Jiang, V. Kaever, O. Rackham, A. Chabes, Maria Falkenberg, A. Filipovska, N. G. Larsson, Claes M Gustafsson
Molecular Cell - 2019 -
Organization of DNA in mammalian
mitochondria
G. É R. Farge, Maria Falkenberg
International Journal of Molecular Sciences - 2019 -
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA
deletions
Örjan Persson, Yazh Muthukumar, Swaraj Basu, Louise Jenninger, Jay (Jennifer) Uhler, Anna-Karin Berglund, R. McFarland, R. W. Taylor, Claes M Gustafsson, Erik Larsson, Maria Falkenberg
Nature Communications - 2019 -
RNase H1 directs origin-specific initiation of DNA replication in human
mitochondria
Viktor Posse, Ali Al-Behadili, Jay (Jennifer) Uhler, Anders R Clausen, A. Reyes, M. Zeviani, Maria Falkenberg, Claes M Gustafsson
Plos Genetics - 2019 -
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE
helicase.
Bradley Peter, Geraldine Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg
Human molecular genetics - 2019 -
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing
progeria
S. Matic, M. Jiang, Thomas J. Nicholls, Jay (Jennifer) Uhler, C. Dirksen-Schwanenland, P. L. Polosa, M. L. Simard, X. P. Li, I. Atanassov, O. Rackham, A. Filipovska, J. B. Stewart, Maria Falkenberg, N. G. Larsson, D. Milenkovic
Nature Communications - 2018 -
Mitochondrial DNA replication in mammalian cells: overview of the
pathway
Maria Falkenberg
Essays in Biochemistry - 2018 -
Topoisomerase 3α Is Required for Decatenation and Segregation of Human
mtDNA
Thomas J. Nicholls, C. A. Nadalutti, E. Motori, E. W. Sommerville, G. S. Gorman, Swaraj Basu, Emily Hoberg, D. M. Turnbull, P. F. Chinnery, N. G. Larsson, Erik Larsson, Maria Falkenberg, R. W. Taylor, J. D. Griffith, Claes M Gustafsson
Molecular Cell - 2018 -
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase
gamma
Triinu Siibak, P. Clemente, A. Bratic, H. Bruhn, T. E. S. Kauppila, Bertil Macao, F. A. Schober, N. Lesko, R. Wibom, K. Naess, I. Nennesmo, A. Wedell, Bradley Peter, C. Freyer, Maria Falkenberg
Human Molecular Genetics - 2017 -
An Adaptable High-Throughput Technology Enabling the Identification of Specific Transcription
Modulators
T. Bergbrede, Emily Hoberg, N. G. Larsson, Maria Falkenberg, Claes M Gustafsson
Slas Discovery - 2017 -
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial
DNA.
Anna-Karin Berglund, Clara Navarrete, Martin K M Engqvist, Emily Hoberg, Zsolt Szilagyi, Robert W Taylor, Claes M Gustafsson, Maria Falkenberg, Anders R Clausen
PLoS genetics - 2017 -
Selective mitochondrial DNA degradation following double-strand
breaks
A. Moretton, F. Morel, Bertil Macao, P. Lachaume, L. Ishak, M. Lefebvre, I. Garreau-Balandier, P. Vernet, Maria Falkenberg, G. Farge
Plos One - 2017 -
MGME1 processes flaps into ligatable nicks in concert with DNA polymerase gamma during mtDNA
replication
Jay (Jennifer) Uhler, Christian Thörn, Thomas J. Nicholls, S. Matic, D. Milenkovic, Claes M Gustafsson, Maria Falkenberg
Nucleic Acids Research - 2016 -
Mitochondrial transcription termination factor 1 directs polar replication fork
pausing
Yonghong Shi, Viktor Posse, Xuefeng Zhu, A. K. Hyvarinen, H. T. Jacobs, Maria Falkenberg, Claes M Gustafsson
Nucleic Acids Research - 2016 -
Maintenance and Expression of Mammalian Mitochondrial
DNA
Claes M Gustafsson, Maria Falkenberg, N. G. Larsson
Annual Review of Biochemistry - 2016 -
Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence
element
Elisabeth Jemt, Örjan Persson, Yonghong Shi, Majda Mehmedovic, Jay (Jennifer) Uhler, Marcela Davila Lopez, C. Freyer, Claes M Gustafsson, Tore Samuelsson, Maria Falkenberg
Nucleic Acids Research - 2015 -
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered
flies
A. Bratic, T. E. S. Kauppila, Bertil Macao, S. Grönke, Triinu Siibak, J. B. Stewart, F. Baggio, J. Dols, L. Partridge, Maria Falkenberg, A. Wredenberg, N. G. Larsson
Nature Communications - 2015 -
Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial
nucleoid
C. Kukat, K. M. Davies, C. A. Wurm, H. Spahr, N. A. Bonekamp, I. Kuhl, F. Joos, P. L. Polosa, C. B. Park, Viktor Posse, Maria Falkenberg, S. Jakobs, W. Kuhlbrandt, N. G. Larsson
Proceedings of the National Academy of Sciences of the United States of America - 2015
More publications
We have limited the number of publications on this page. Visit GUP (The Publication Database for Gothenburg University) to find more publications.