Pathogenic mechanisms affecting mitochondrial DNA replication and transcription

1. Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression.
Meenakshi Singh, Viktor Posse, Bradley Peter, Maria Falkenberg and Claes M. Gustafsson. Nucleic Acids Research, 2022, Vol. 50, No. 2, 989–999. doi.org/10.1093/nar/gkab1251

doi.org/10.1093/nar/gkab1251

 

2. POLRMT mutations impair mitochondrial transcription causing neurological disease.
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson and Robert W. Taylor. Nature Communications, 2021, Vol. 12, No. 1, 1135.

doi.org/10.1038/s41467-021-21279-0

 

3. 5-Fluorouracil and 6-Thioguanine impair mitochondrial DNA replication.
Meenakshi Singh, Louise Jenninger, Emily Hoberg, Laleh Arabinian, Xuefeng Zhu, Claes M. Gustafsson and Maria Falkenberg.

Manuscript to be submitted.

 

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