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Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.
EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
EBioMedicine. 2019.
PMID: 31351931
Free PMC article.
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.
Blázquez-Bermejo C, et al.
FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.
FASEB J. 2019.
PMID: 30848931
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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
Carreño-Gago L, Blázquez-Bermejo C, Díaz-Manera J, Cámara Y, Gallardo E, Martí R, Torres-Torronteras J, García-Arumí E.
Carreño-Gago L, et al. Among authors: blazquez bermejo c.
Front Genet. 2019 Jun 14;10:576. doi: 10.3389/fgene.2019.00576. eCollection 2019.
Front Genet. 2019.
PMID: 31258551
Free PMC article.
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez C, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras D, Kalko SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya J, Ruiz-Pesini E, Villarroya J, Montero R, Villarroya F, Artuch R, Hirano M, Nascimento A, Jimenez-Mallebrera C.
Dominguez-Gonzalez C, et al. Among authors: blazquez bermejo c.
Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8.
Sci Rep. 2020.
PMID: 32572108
Free PMC article.
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