| Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo PA Gammage, C Viscomi, ML Simard, ASH Costa, E Gaude, CA Powell, ... Nature medicine 24 (11), 1691-1695, 2018 | 265 | 2018 |
| Linear mitochondrial DNA is rapidly degraded by components of the replication machinery V Peeva, D Blei, G Trombly, S Corsi, MJ Szukszto, P Rebelo-Guiomar, ... Nature communications 9 (1), 1727, 2018 | 185 | 2018 |
| Regulation of mammalian mitochondrial gene expression: recent advances SF Pearce, P Rebelo-Guiomar, AR D’Souza, CA Powell, L Van Haute, ... Trends in biochemical sciences 42 (8), 625-639, 2017 | 178 | 2017 |
| Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs PA Gammage, E Gaude, L Van Haute, P Rebelo-Guiomar, CB Jackson, ... Nucleic acids research 44 (16), 7804-7816, 2016 | 118 | 2016 |
| Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior APM De Brouwer, R Abou Jamra, N Körtel, C Soyris, DL Polla, M Safra, ... The American Journal of Human Genetics 103 (6), 1045-1052, 2018 | 96 | 2018 |
| The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules S Zaganelli, P Rebelo-Guiomar, K Maundrell, A Rozanska, S Pierredon, ... Journal of Biological Chemistry 292 (11), 4519-4532, 2017 | 80 | 2017 |
| METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis LV Haute, AG Hendrick, AR D’Souza, CA Powell, P Rebelo-Guiomar, ... Nucleic acids research 47 (19), 10267-10281, 2019 | 79 | 2019 |
| Maturation of selected human mitochondrial tRNAs requires deadenylation SF Pearce, J Rorbach, LV Haute, AR D’Souza, P Rebelo-Guiomar, ... Elife 6, e27596, 2017 | 74 | 2017 |
| Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome C Garone, AR D’Souza, C Dallabona, T Lodi, P Rebelo-Guiomar, ... Human molecular genetics 26 (21), 4257-4266, 2017 | 69 | 2017 |
| Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ... The American Journal of Human Genetics 101 (4), 525-538, 2017 | 67 | 2017 |
| Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ... Nature communications 9 (1), 4065, 2018 | 47 | 2018 |
| The mammalian mitochondrial epitranscriptome P Rebelo-Guiomar, CA Powell, L Van Haute, M Minczuk Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms 1862 (3), 429-446, 2019 | 39 | 2019 |
| Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing M Saoura, CA Powell, R Kopajtich, A Alahmad, HH AL‐Balool, B Albash, ... Human mutation 40 (10), 1731-1748, 2019 | 35 | 2019 |
| Quantitative density gradient analysis by mass spectrometry (qDGMS) and complexome profiling analysis (ComPrAn) R package for the study of macromolecular complexes P Páleníková, ME Harbour, S Ding, IM Fearnley, L Van Haute, J Rorbach, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1862 (6), 148399, 2021 | 18 | 2021 |
| A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit P Rebelo-Guiomar, S Pellegrino, KC Dent, A Sas-Chen, L Miller-Fleming, ... Nature communications 13 (1), 929, 2022 | 15 | 2022 |
| Cardiac mitochondrial function depends on BUD23 mediated ribosome programming M Baxter, M Voronkov, T Poolman, G Galli, C Pinali, L Goosey, A Knight, ... Elife 9, e50705, 2020 | 15 | 2020 |
| YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria AR D’Souza, L Van Haute, CA Powell, CD Mutti, P Páleníková, ... Nucleic Acids Research 49 (10), 5798-5812, 2021 | 11 | 2021 |
| TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease L Van Haute, E O’connor, H Díaz-Maldonado, B Munro, K Polavarapu, ... Nature Communications 14 (1), 1009, 2023 | 8 | 2023 |
| Protocol to study human mitochondrial ribosome using quantitative density gradient analysis by mass spectrometry and complexome profiling analysis P Páleníková, M Minczuk, P Rebelo-Guiomar STAR protocols 4 (4), 102605, 2023 | 1 | 2023 |
| NSMB’s 30th anniversary: shining a light on the invisible P Rebelo-Guiomar Nature Structural & Molecular Biology 31 (1), 3-3, 2024 | | 2024 |
