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The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.
Rodríguez-López R, Osorio A, Ribas G, Pollán M, Sánchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martínez JI, Esteban-Cardeñosa E, Alonso C, Letón R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, González-Sarmiento R, Caldés T, Díez O, Benítez J. Rodríguez-López R, et al. Among authors: armengod me. Int J Cancer. 2004 Jul 20;110(6):845-9. doi: 10.1002/ijc.20169. Int J Cancer. 2004. PMID: 15170666
The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments.
Meseguer S, Navarro-González C, Panadero J, Villarroya M, Boutoual R, Sánchez-Alcázar JA, Armengod ME. Meseguer S, et al. Among authors: armengod me. Biochim Biophys Acta Mol Cell Res. 2019 Sep;1866(9):1433-1449. doi: 10.1016/j.bbamcr.2019.06.004. Epub 2019 Jun 11. Biochim Biophys Acta Mol Cell Res. 2019. PMID: 31195049 Free article.
Bacillus subtilis exhibits MnmC-like tRNA modification activities.
Moukadiri I, Villarroya M, Benítez-Páez A, Armengod ME. Moukadiri I, et al. Among authors: armengod me. RNA Biol. 2018;15(9):1167-1173. doi: 10.1080/15476286.2018.1517012. Epub 2018 Sep 24. RNA Biol. 2018. PMID: 30249152 Free PMC article.
The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME. Meseguer S, et al. Among authors: armengod me. Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):3022-3037. doi: 10.1016/j.bbadis.2018.06.014. Epub 2018 Jun 19. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29928977 Free article.
Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.
Navarro-González C, Moukadiri I, Villarroya M, López-Pascual E, Tuck S, Armengod ME. Navarro-González C, et al. Among authors: armengod me. PLoS Genet. 2017 Jul 21;13(7):e1006921. doi: 10.1371/journal.pgen.1006921. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28732077 Free PMC article.
Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.
Martínez-Zamora A, Meseguer S, Esteve JM, Villarroya M, Aguado C, Enríquez JA, Knecht E, Armengod ME. Martínez-Zamora A, et al. Among authors: armengod me. PLoS One. 2015 Dec 7;10(12):e0144273. doi: 10.1371/journal.pone.0144273. eCollection 2015. PLoS One. 2015. PMID: 26642043 Free PMC article.
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