Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase B Peter, G Farge, C Pardo-Hernandez, S Tångefjord, M Falkenberg Human Molecular Genetics 28 (7), 1090-1099, 2019 | 20 | 2019 |
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion P Silva-Pinheiro, C Pardo-Hernández, A Reyes, L Tilokani, A Mishra, ... Nucleic Acids Research 49 (9), 5230-5248, 2021 | 19 | 2021 |
Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation M Mehmedović, M Martucci, H Spåhr, L Ishak, A Mishra, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1868 (10), 166467, 2022 | 5 | 2022 |
A dual allosteric pathway drives human mitochondrial Lon GV Gesé, S Shahzad, C Pardo-Hernández, A Wramstedt, M Falkenberg, ... bioRxiv, 2021.06. 09.447696, 2021 | 3 | 2021 |
Molecular and structural studies of proteins required for mitochondrial DNA maintenance C Pardo Hernández | | 2022 |
Correction to ‘DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion’ P Silva-Pinheiro, C Pardo-Hernández, A Reyes, L Tilokani, A Mishra, ... Nucleic Acids Research 49 (18), 10803-10803, 2021 | | 2021 |
In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation P Silva-Pinheiro, C Pardo-Hernández, A Reyes, L Tilokani, A Mishra, ... bioRxiv, 2020.09. 10.291369, 2020 | | 2020 |
Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase B Peter, G Farge, C Pardo-Hernandez, S Tångefjord, M Falkenberg Human Molecular Genetics 29 (3), 528, 2020 | | 2020 |
BBA-Molecular Basis of Disease M Mehmedovic, M Martucci, H Spåhr, L Ishak, A Mishra, ... | | |