Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. by Anna-Karin Berglund, Clara Navarrete, Martin K M Engqvist, Emily Hoberg, Zsolt Szilagyi, Robert W Taylor, Claes M Gustafsson, Maria Falkenberg, Anders R Clausen

Get full text

Mechanistic basis of atypical TERT promoter mutations by 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 Larsson

Get full text

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity by Samantha Corrà, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Sirelin Sillamaa, Emily Hoberg, Katarina A. S. 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

Get full text

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

Get full text