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PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A, Picó S, López-Márquez A, Rodriguez-López C, Montalvo E, Alvarez M, Castro M, Ramón-Maiques S, Pérez B, Lucas JJ, Richard E, Desviat LR. Martínez-Pizarro A, et al. Among authors: lopez marquez a. Hum Mol Genet. 2024 Mar 23:ddae051. doi: 10.1093/hmg/ddae051. Online ahead of print. Hum Mol Genet. 2024. PMID: 38520741
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.
Almici E, Chiappini V, López-Márquez A, Badosa C, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento A, Roldán M, Lagunas A, Jiménez-Mallebrera C, Samitier J. Almici E, et al. Among authors: lopez marquez a. Front Bioeng Biotechnol. 2022 Apr 25;10:851825. doi: 10.3389/fbioe.2022.851825. eCollection 2022. Front Bioeng Biotechnol. 2022. PMID: 35547158 Free PMC article.
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. López-Márquez A, et al. Int J Mol Sci. 2022 Apr 16;23(8):4410. doi: 10.3390/ijms23084410. Int J Mol Sci. 2022. PMID: 35457228 Free PMC article.
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
Fulgencio-Covián A, Álvarez M, Pepers BA, López-Márquez A, Ugarte M, Pérez B, van Roon-Mom WMC, Desviat LR, Richard E. Fulgencio-Covián A, et al. Among authors: lopez marquez a. Stem Cell Res. 2020 Dec;49:102055. doi: 10.1016/j.scr.2020.102055. Epub 2020 Oct 17. Stem Cell Res. 2020. PMID: 33128956 Free article.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. López-Márquez A, et al. Stem Cell Res. 2019 Jul;38:101469. doi: 10.1016/j.scr.2019.101469. Epub 2019 May 22. Stem Cell Res. 2019. PMID: 31132581 Free article.
14 results