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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: nicholls tj. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Controlling the topology of mammalian mitochondrial DNA.
Menger KE, Rodríguez-Luis A, Chapman J, Nicholls TJ. Menger KE, et al. Among authors: nicholls tj. Open Biol. 2021 Sep;11(9):210168. doi: 10.1098/rsob.210168. Epub 2021 Sep 22. Open Biol. 2021. PMID: 34547213 Free PMC article. Review.
Two type I topoisomerases maintain DNA topology in human mitochondria.
Menger KE, Chapman J, Díaz-Maldonado H, Khazeem MM, Deen D, Erdinc D, Casement JW, Di Leo V, Pyle A, Rodríguez-Luis A, Cowell IG, Falkenberg M, Austin CA, Nicholls TJ. Menger KE, et al. Among authors: nicholls tj. Nucleic Acids Res. 2022 Oct 28;50(19):11154-11174. doi: 10.1093/nar/gkac857. Nucleic Acids Res. 2022. PMID: 36215039 Free PMC article.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Nicholls TJ, et al. Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28. Mol Cell. 2018. PMID: 29290614 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: nicholls tj. 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.
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Jiang M, Xie X, Zhu X, Jiang S, Milenkovic D, Misic J, Shi Y, Tandukar N, Li X, Atanassov I, Jenninger L, Hoberg E, Albarran-Gutierrez S, Szilagyi Z, Macao B, Siira SJ, Carelli V, Griffith JD, Gustafsson CM, Nicholls TJ, Filipovska A, Larsson NG, Falkenberg M. Jiang M, et al. Among authors: nicholls tj. Sci Adv. 2021 Jul 2;7(27):eabf8631. doi: 10.1126/sciadv.abf8631. Print 2021 Jul. Sci Adv. 2021. PMID: 34215584 Free PMC article.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Lehmann D, et al. Among authors: nicholls tj. Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472. Nucleic Acids Res. 2019. PMID: 31147703 Free PMC article.
101 results