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2016 1
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Page 1
The mammalian mitochondrial epitranscriptome.
Rebelo-Guiomar P, Powell CA, Van Haute L, Minczuk M. Rebelo-Guiomar P, et al. Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):429-446. doi: 10.1016/j.bbagrm.2018.11.005. Epub 2018 Dec 4. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 30529456 Free PMC article. Review.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Among authors: rebelo guiomar p. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit.
Rebelo-Guiomar P, Pellegrino S, Dent KC, Sas-Chen A, Miller-Fleming L, Garone C, Van Haute L, Rogan JF, Dinan A, Firth AE, Andrews B, Whitworth AJ, Schwartz S, Warren AJ, Minczuk M. Rebelo-Guiomar P, et al. Nat Commun. 2022 Feb 17;13(1):929. doi: 10.1038/s41467-022-28503-5. Nat Commun. 2022. PMID: 35177605 Free PMC article.
Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances.
Pearce SF, Rebelo-Guiomar P, D'Souza AR, Powell CA, Van Haute L, Minczuk M. Pearce SF, et al. Among authors: rebelo guiomar p. Trends Biochem Sci. 2017 Aug;42(8):625-639. doi: 10.1016/j.tibs.2017.02.003. Epub 2017 Mar 9. Trends Biochem Sci. 2017. PMID: 28285835 Free PMC article. Review.
Maturation of selected human mitochondrial tRNAs requires deadenylation.
Pearce SF, Rorbach J, Van Haute L, D'Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE, Minczuk M. Pearce SF, et al. Among authors: rebelo guiomar p. Elife. 2017 Jul 26;6:e27596. doi: 10.7554/eLife.27596. Elife. 2017. PMID: 28745585 Free PMC article.
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.
Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, Minczuk M. Gammage PA, et al. Among authors: rebelo guiomar p. Nat Med. 2018 Nov;24(11):1691-1695. doi: 10.1038/s41591-018-0165-9. Epub 2018 Sep 24. Nat Med. 2018. PMID: 30250142 Free PMC article.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: rebelo guiomar pf. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
19 results