Gene Editing for Inherited Red Blood Cell Diseases

por Quintana-Bustamante, Oscar, Fañanas-Baquero, Sara, Dessy-Rodriguez, Mercedes, Ojeda-Pérez, Isabel, Segovia, Jose-Carlos
Publicado 2022

Altered Hematopoiesis in Mice Lacking DNA Polymerase μ Is Due to Inefficient Double-Strand Break Repair

por Lucas, Daniel, Escudero, Beatriz, Ligos, José Manuel, Segovia, Jose Carlos, Estrada, Juan Camilo, Terrados, Gloria, Blanco, Luis, Samper, Enrique, Bernad, Antonio
Publicado 2009

Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations

por Serrano, Luis Javier, Garcia-Arranz, Mariano, De Pablo-Moreno, Juan A., Segovia, José Carlos, Olivera-Salazar, Rocío, Garcia-Olmo, Damián, Liras, Antonio
Publicado 2022

The downregulated membrane expression of CD18 in CD34(+) cells defines a primitive population of human hematopoietic stem cells

por Mesa-Núñez, Cristina, Leon-Rico, Diego, Aldea, Montserrat, Damián, Carlos, Sanchez-Baltasar, Raquel, Sanchez, Rebeca, Alberquilla, Omaira, Segovia, José Carlos, Bueren, Juan Antonio, Almarza, Elena
Publicado 2020

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

por Fañanas-Baquero, Sara, Morín, Matías, Fernández, Sergio, Ojeda-Perez, Isabel, Dessy-Rodriguez, Mercedes, Giurgiu, Miruna, Bueren, Juan A., Moreno-Pelayo, Miguel Angel, Segovia, Jose Carlos, Quintana-Bustamante, Oscar
Publicado 2023

Efficient and Fast Generation of Relevant Disease Mouse Models by In Vitro and In Vivo Gene Editing of Zygotes

por Sanchez-Baltasar, Raquel, Garcia-Torralba, Aida, Nieto-Romero, Virginia, Page, Angustias, Molinos-Vicente, Andrea, López-Manzaneda, Sergio, Ojeda-Pérez, Isabel, Ramirez, Angel, Navarro, Manuel, Segovia, José Carlos, García-Bravo, María
Publicado 2022

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

por Schwartz, Jonathan D., Barcellini, Wilma, Grace, Rachel F., Bianchi, Paola, Zanella, Alberto, López Lorenzo, José Luis, Sevilla, Julián, Shah, Ami J., Glader, Bertil, Nicoletti, Eileen, Navarro Ordoñez, Susana, Segovia, José Carlos
Publicado 2022

Human Pluripotent Stem Cell-Derived Neurons Are Functionally Mature In Vitro and Integrate into the Mouse Striatum Following Transplantation

por Comella-Bolla, Andrea, Orlandi, Javier G., Miguez, Andrés, Straccia, Marco, García-Bravo, María, Bombau, Georgina, Galofré, Mireia, Sanders, Phil, Carrere, Jordi, Segovia, José Carlos, Blasi, Joan, Allen, Nicholas D., Alberch, Jordi, Soriano, Jordi, Canals, Josep M.
Publicado 2020

In Vitro and In Vivo Genetic Disease Modeling via NHEJ-Precise Deletions Using CRISPR-Cas9

por López-Manzaneda, Sergio, Ojeda-Pérez, Isabel, Zabaleta, Nerea, García-Torralba, Aída, Alberquilla, Omaira, Torres, Raúl, Sánchez-Domínguez, Rebeca, Torella, Laura, Olivier, Emmanuel, Mountford, Joanne, Ramírez, Juan C., Bueren, Juan A., González-Aseguinolaza, Gloria, Segovia, Jose-Carlos
Publicado 2020

Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia

por Casado, José A., Valeri, Antonio, Sanchez-Domínguez, Rebeca, Vela, Paula, López, Andrea, Navarro, Susana, Alberquilla, Omaira, Hanenberg, Helmut, Pujol, Roser, Segovia, José-Carlos, Minguillón, Jordi, Surrallés, Jordi, de Heredia, Cristina Díaz, Sevilla, Julián, Rio, Paula, Bueren, Juan A.
Publicado 2022

Natural estrogens enhance the engraftment of human hematopoietic stem and progenitor cells in immunodeficient mice

por Fañanas-Baquero, Sara, Orman, Israel, Aparicio, Federico Becerra, de Miguel, Silvia Bermudez, Merino, Jordi Garcia, Yañez, Rosa, Sainz, Yolanda Fernandez, Sánchez, Rebeca, Dessy-Rodríguez, Mercedes, Alberquilla, Omaira, Alfaro, David, Zapata, Agustin, Bueren, Juan A., Segovia, Jose Carlos, Quintana-Bustamante, Oscar
Publicado 2020

Soluble mutant huntingtin drives early human pathogenesis in Huntington’s disease

por Miguez, Andrés, Gomis, Cinta, Vila, Cristina, Monguió-Tortajada, Marta, Fernández-García, Sara, Bombau, Georgina, Galofré, Mireia, García-Bravo, María, Sanders, Phil, Fernández-Medina, Helena, Poquet, Blanca, Salado-Manzano, Cristina, Roura, Santiago, Alberch, Jordi, Segovia, José Carlos, Allen, Nicholas D., Borràs, Francesc E., Canals, Josep M.
Publicado 2023

Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects

por Laskowski, Tamara J., Van Caeneghem, Yasmine, Pourebrahim, Rasoul, Ma, Chao, Ni, Zhenya, Garate, Zita, Crane, Ana M., Li, Xuan Shirley, Liao, Wei, Gonzalez-Garay, Manuel, Segovia, Jose Carlos, Paschon, David E., Rebar, Edward J., Holmes, Michael C., Kaufman, Dan, Vandekerckhove, Bart, Davis, Brian R.
Publicado 2016

Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10

por Hervás-Salcedo, Rosario, Fernández-García, María, Hernando-Rodríguez, Miriam, Quintana-Bustamante, Oscar, Segovia, Jose-Carlos, Alvarez-Silva, Marcio, García-Arranz, Mariano, Minguez, Pablo, del Pozo, Victoria, de Alba, Marta Rodríguez, García-Olmo, Damián, Ayuso, Carmen, Lamana, María Luisa, Bueren, Juan A., Yañez, Rosa María
Publicado 2021

Generation of NKX2.5(GFP) Reporter Human iPSCs and Differentiation Into Functional Cardiac Fibroblasts

por López-Muneta, Leyre, Linares, Javier, Casis, Oscar, Martínez-Ibáñez, Laura, González Miqueo, Arantxa, Bezunartea, Jaione, Sanchez de la Nava, Ana Maria, Gallego, Mónica, Fernández-Santos, María Eugenia, Rodriguez-Madoz, Juan Roberto, Aranguren, Xabier L., Fernández-Avilés, Francisco, Segovia, José Carlos, Prósper, Felipe, Carvajal-Vergara, Xonia
Publicado 2022

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency

por Fañanas-Baquero, Sara, Quintana-Bustamante, Oscar, Dever, Daniel P., Alberquilla, Omaira, Sanchez-Dominguez, Rebeca, Camarena, Joab, Ojeda-Perez, Isabel, Dessy-Rodriguez, Mercedes, Turk, Rolf, Schubert, Mollie S., Lattanzi, Annalisa, Xu, Liwen, Lopez-Lorenzo, Jose L., Bianchi, Paola, Bueren, Juan A., Behlke, Mark A., Porteus, Matthew, Segovia, Jose-Carlos
Publicado 2021

Midkine signaling maintains the self-renewal and tumorigenic capacity of glioma initiating cells

por López-Valero, Israel, Dávila, David, González-Martínez, José, Salvador-Tormo, Nélida, Lorente, Mar, Saiz-Ladera, Cristina, Torres, Sofía, Gabicagogeascoa, Estibaliz, Hernández-Tiedra, Sonia, García-Taboada, Elena, Mendiburu-Eliçabe, Marina, Rodríguez-Fornés, Fátima, Sánchez-Domínguez, Rebeca, Segovia, José Carlos, Sánchez-Gómez, Pilar, Matheu, Ander, Sepúlveda, Juan M., Velasco, Guillermo
Publicado 2020

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

por Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia, Venturi, Veronica, Dessy-Rodriguez, Mercedes, Olivella, Mireia, Husami, Ammar, de Soto, Concepción Pérez, Morales-Camacho, Rosario M., Villegas, Ana, González-Fernández, Fernando-Ataulfo, Morado, Marta, Kalfa, Theodosia A., Quintana-Bustamante, Oscar, Pérez-Montero, Santiago, Tornador, Cristian, Segovia, Jose-Carlos, Sánchez, Mayka
Publicado 2022

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment

por Navarro, Susana, Quintana-Bustamante, Oscar, Sanchez-Dominguez, Rebeca, Lopez-Manzaneda, Sergio, Ojeda-Perez, Isabel, Garcia-Torralba, Aida, Alberquilla, Omaira, Law, Kenneth, Beard, Brian C., Bastone, Antonella, Rothe, Michael, Villanueva, Mariela, Ramirez, Juan C., Fañanas-Baquero, Sara, Nieto-Romero, Virginia, Molinos-Vicente, Andrea, Gutierrez, Sonia, Nicoletti, Eileen, García-Bravo, María, Bueren, Juan A., Schwartz, Jonathan D., Segovia, Jose-Carlos
Publicado 2021