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Did you mean m manczak[Author] (12 results)?
Cell lineage-specific mitochondrial resilience during mammalian organogenesis.
Burr SP, Klimm F, Glynos A, Prater M, Sendon P, Nash P, Powell CA, Simard ML, Bonekamp NA, Charl J, Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, Falkenberg M, Jones N, Minczuk M, Stewart JB, Chinnery PF. Burr SP, et al. Among authors: minczuk m. Cell. 2023 Mar 16;186(6):1212-1229.e21. doi: 10.1016/j.cell.2023.01.034. Epub 2023 Feb 23. Cell. 2023. PMID: 36827974 Free article.
Balancing of mitochondrial translation through METTL8-mediated m(3)C modification of mitochondrial tRNAs.
Schöller E, Marks J, Marchand V, Bruckmann A, Powell CA, Reichold M, Mutti CD, Dettmer K, Feederle R, Hüttelmaier S, Helm M, Oefner P, Minczuk M, Motorin Y, Hafner M, Meister G. Schöller E, et al. Among authors: minczuk m. Mol Cell. 2021 Dec 2;81(23):4810-4825.e12. doi: 10.1016/j.molcel.2021.10.018. Epub 2021 Nov 12. Mol Cell. 2021. PMID: 34774131 Free article.
Here, we find that the RNA methyltransferase METTL8 is a mitochondrial protein that facilitates 3-methyl-cytidine (m(3)C) methylation at position C(32) of the mt-tRNA(Ser(UCN)) and mt-tRNA(Thr). ...The well-balanced translation of mt-tRNA(Ser(UCN))- and mt-tRNA(Thr)-depend …
Here, we find that the RNA methyltransferase METTL8 is a mitochondrial protein that facilitates 3-methyl-cytidine (m(3)C) methylation …
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. Among authors: minczuk m. Nat Commun. 2022 Feb 17;13(1):929. doi: 10.1038/s41467-022-28503-5. Nat Commun. 2022. PMID: 35177605 Free PMC article.
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: minczuk m. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
The human mitochondrial genome contains a second light strand promoter.
Tan BG, Mutti CD, Shi Y, Xie X, Zhu X, Silva-Pinheiro P, Menger KE, Díaz-Maldonado H, Wei W, Nicholls TJ, Chinnery PF, Minczuk M, Falkenberg M, Gustafsson CM. Tan BG, et al. Among authors: minczuk m. Mol Cell. 2022 Oct 6;82(19):3646-3660.e9. doi: 10.1016/j.molcel.2022.08.011. Epub 2022 Aug 30. Mol Cell. 2022. PMID: 36044900 Free article.
TRMT2B is responsible for both tRNA and rRNA m(5)U-methylation in human mitochondria.
Powell CA, Minczuk M. Powell CA, et al. Among authors: minczuk m. RNA Biol. 2020 Apr;17(4):451-462. doi: 10.1080/15476286.2020.1712544. Epub 2020 Jan 17. RNA Biol. 2020. PMID: 31948311 Free PMC article.
RNA species play host to a plethora of post-transcriptional modifications which together make up the epitranscriptome. 5-methyluridine (m(5)U) is one of the most common modifications made to cellular RNA, where it is found almost ubiquitously in bacterial and eukaryotic cy …
RNA species play host to a plethora of post-transcriptional modifications which together make up the epitranscriptome. 5-methyluridine (m …
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Hathazi D, et al. Among authors: minczuk m. EMBO J. 2020 Dec 1;39(23):e105364. doi: 10.15252/embj.2020105364. Epub 2020 Oct 31. EMBO J. 2020. PMID: 33128823 Free PMC article.
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6-months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutat …
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infan …
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: minczuk m. 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.
To address the lack of effective treatment for these disorders, we exploited a recently developed mouse model that recapitulates common molecular features of heteroplasmic mtDNA disease in cardiac tissue: the m.5024C>T tRNA(Ala) mouse. Through application of a programma …
To address the lack of effective treatment for these disorders, we exploited a recently developed mouse model that recapitulates common mole …
20 results