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Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Machado-Pinilla R, Carrillo J, Manguan-Garcia C, Sastre L, Mentzer A, Gu BW, Mason PJ, Perona R. Machado-Pinilla R, et al. Among authors: sastre l. Clin Transl Oncol. 2012 Oct;14(10):755-63. doi: 10.1007/s12094-012-0865-4. Epub 2012 Jul 24. Clin Transl Oncol. 2012. PMID: 22855157 Free PMC article.
Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.
Manguan-Garcia C, Pintado-Berninches L, Carrillo J, Machado-Pinilla R, Sastre L, Pérez-Quilis C, Esmoris I, Gimeno A, García-Giménez JL, Pallardó FV, Perona R. Manguan-Garcia C, et al. Among authors: sastre l. PLoS One. 2014 Jul 2;9(7):e101424. doi: 10.1371/journal.pone.0101424. eCollection 2014. PLoS One. 2014. PMID: 24987982 Free PMC article.
GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.
Iarriccio L, Manguán-García C, Pintado-Berninches L, Mancheño JM, Molina A, Perona R, Sastre L. Iarriccio L, et al. Among authors: sastre l. PLoS One. 2015 Nov 16;10(11):e0142980. doi: 10.1371/journal.pone.0142980. eCollection 2015. PLoS One. 2015. PMID: 26571381 Free PMC article.
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Carrillo J, Calvete O, Pintado-Berninches L, Manguan-García C, Sevilla Navarro J, Arias-Salgado EG, Sastre L, Guenechea G, López Granados E, de Villartay JP, Revy P, Benitez J, Perona R. Carrillo J, et al. Among authors: sastre l. Hum Mol Genet. 2017 May 15;26(10):1900-1914. doi: 10.1093/hmg/ddx098. Hum Mol Genet. 2017. PMID: 28369633
110 results