Publications by authors named "Maria Falkenberg"

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Ribonucleotide incorporation into mitochondrial DNA drives inflammation.
Amir Bahat, Dusanka Milenkovic, Eileen Cors, Mabel Barnett, Sadig Niftullayev, Maria Falkenberg

Nature· November 2025

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Author Correction: Ribonucleotide incorporation into mitochondrial DNA drives inflammation.
Amir Bahat, Dusanka Milenkovic, Eileen Cors, Mabel Barnett, Sadig Niftullayev, Maria Falkenberg

Nature· October 2025

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Proteolytic cleavage activates the mitochondrial isoform of TOP3A.
Direnis Erdinc, Christin A Albus, Alejandro Rodríguez-Luis, Katja E Menger, Annika Thorsell, Maria Falkenberg

Nucleic Acids Res· October 2025

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Small molecules restore mutant mitochondrial DNA polymerase activity.
Sebastian Valenzuela, Xuefeng Zhu, Bertil Macao, Mattias Stamgren, Carol Geukens, Maria Falkenberg

Nature· June 2025

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Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Samantha Corrà, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Maria Falkenberg

Nat Commun· May 2025

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Mechanistic basis of atypical TERT promoter mutations.
Kerryn Elliott, Vinod Kumar Singh, Alan Bäckerholm, Linnea Ögren, Markus Lindberg, Maria Falkenberg

Nat Commun· November 2024

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Replication and Transcription of Human Mitochondrial DNA.
Maria Falkenberg, Nils-Göran Larsson, Claes M Gustafsson

Annu Rev Biochem· August 2024

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The mutation R107Q alters mtSSB ssDNA compaction ability and binding dynamics.
Martial Martucci, Amandine Moretton, Aleix Tarrés-Solé, Virginie Ropars, Louise Lambert, Maria Falkenberg

Nucleic Acids Res· June 2024

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Mechanisms and regulation of human mitochondrial transcription.
Benedict G Tan, Claes M Gustafsson, Maria Falkenberg

Nat Rev Mol Cell Biol· February 2024

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The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Direnis Erdinc, Bertil Macao, Sebastian Valenzuela, Nicole Lesko, Karin Naess, Maria Falkenberg

Biochim Biophys Acta Mol Basis Dis· October 2023

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Maria Falkenberg

EMBO Mol Med· May 2023

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Cell lineage-specific mitochondrial resilience during mammalian organogenesis.
Stephen P Burr, Florian Klimm, Angelos Glynos, Malwina Prater, Pamella Sendon, Maria Falkenberg

Cell· March 2023

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In Vitro Assays of TWINKLE Function.
Jay P Uhler, Ulrika Alexandersson, Maria Falkenberg

Methods Mol Biol· February 2023

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Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
Majda Mehmedović, Martial Martucci, Henrik Spåhr, Layal Ishak, Anup Mishra, Maria Falkenberg

Biochim Biophys Acta Mol Basis Dis· October 2022

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The human mitochondrial genome contains a second light strand promoter.
Benedict G Tan, Christian D Mutti, Yonghong Shi, Xie Xie, Xuefeng Zhu, Maria Falkenberg

Mol Cell· October 2022

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Two type I topoisomerases maintain DNA topology in human mitochondria.
Katja E Menger, James Chapman, Héctor Díaz-Maldonado, Mushtaq M Khazeem, Dasha Deen, Maria Falkenberg

Nucleic Acids Res· October 2022

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TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Maria Falkenberg

Mov Disord· September 2022

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Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Jelena Misic, Dusanka Milenkovic, Ali Al-Behadili, Xie Xie, Min Jiang, Maria Falkenberg

Nucleic Acids Res· August 2022

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Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization.
Xuefeng Zhu, Xie Xie, Hrishikesh Das, Benedict G Tan, Yonghong Shi, Maria Falkenberg

Cell· June 2022

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Second trimester fetal thymus size in association to preterm birth.
Christian Porschen, Ralf Schmitz, Rene Schmidt, Kathrin Oelmeier, Kerstin Hammer, Maria Falkenberg

J Perinat Med· February 2022

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Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression.
Meenakshi Singh, Viktor Posse, Bradley Peter, Maria Falkenberg, Claes M Gustafsson

Nucleic Acids Res· January 2022

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Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Maria Falkenberg

Nucleic Acids Res· October 2021

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The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Min Jiang, Xie Xie, Xuefeng Zhu, Shan Jiang, Dusanka Milenkovic, Maria Falkenberg

Sci Adv· July 2021

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DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Maria Falkenberg

Nucleic Acids Res· May 2021

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POLRMT mutations impair mitochondrial transcription causing neurological disease.
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Maria Falkenberg

Nat Commun· February 2021

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