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- Sebastian Valenzuela
Sebastian Valenzuela
Doctoral Student
Department of Medical Biochemistry and Cell biology-
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial
Disease
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V.Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M Gustafsson, Robert McFarland, Robert W. Taylor
Clinical Genetics - 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 -
Resin acids play key roles in shaping microbial communities during degradation of spruce
bark
Amanda Sörensen Ristinmaa, Albert Tafur Rangel, Alexander Idström, Sebastian Valenzuela, Eduard J. Kerkhoven, Phillip B. Pope, Merima Hasani, Johan Larsbrink
Nature Communications - 2023 -
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 -
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 -
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