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Page 1
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0.
Nat Commun. 2021.
PMID: 33602924
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: diaz maldonado h.
Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7.
Nat Commun. 2023.
PMID: 36823193
Free PMC article.
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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: diaz maldonado h.
Nucleic Acids Res. 2022 Oct 28;50(19):11154-11174. doi: 10.1093/nar/gkac857.
Nucleic Acids Res. 2022.
PMID: 36215039
Free PMC article.
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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: diaz maldonado h.
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.
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Transposase interaction with the β sliding clamp: effects on insertion sequence proliferation and transposition rate.
Díaz-Maldonado H, Gómez MJ, Moreno-Paz M, San Martín-Úriz P, Amils R, Parro V, López de Saro FJ.
Díaz-Maldonado H, et al.
Sci Rep. 2015 Aug 26;5:13329. doi: 10.1038/srep13329.
Sci Rep. 2015.
PMID: 26306550
Free PMC article.
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Chromosomal replication dynamics and interaction with the β sliding clamp determine orientation of bacterial transposable elements.
Gómez MJ, Díaz-Maldonado H, González-Tortuero E, López de Saro FJ.
Gómez MJ, et al. Among authors: diaz maldonado h.
Genome Biol Evol. 2014 Mar;6(3):727-40. doi: 10.1093/gbe/evu052.
Genome Biol Evol. 2014.
PMID: 24614824
Free PMC article.
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