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José C Segovia
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Journal Articles

A human genome editing–based MLL :: AF4 ALL model recapitulates key cellular and molecular leukemogenic features

Clara Bueno, Raul Torres-Ruiz, Talia Velasco-Hernandez, Oscar Molina, Paolo Petazzi, Alba Martinez, Virginia Rodriguez, Meritxell Vinyoles, Sandra Cantilena, Owen Williams, Nerea Vega-Garcia, Sandra Rodriguez-Perales, Jose C. Segovia, Oscar Quintana-Bustamante, Anindita Roy, Claus Meyer, Rolf Marschalek, Alastair L. Smith, Thomas A. Milne, Mario F. Fraga, Juan Ramón Tejedor, Pablo Menéndez
Journal: Blood
Blood (2023) 142 (20): 1752–1756.
https://doi.org/10.1182/blood.2023020858
Published: 2023
Includes: Supplemental data
Journal Articles

Lentiviral-mediated Gene Therapy for Adults and Children with Severe Pyruvate Kinase Deficiency: Results from an Ongoing Global Phase 1 Study

Ami J. Shah, José Luis López Lorenzo, Julián Sevilla, Susana Navarro, Lucía Llanos, Begoña Pérez de Camino Gaisse, Sol Sanchez, Josune Zubicaray, Bert Glader, May Chien, Oscar Quintana Bustamante, Miriam Zeini, Grace Choi, Eileen Nicoletti, Gayatri R. Rao, Maria Grazia Roncarolo, Juan A. Bueren, Jonathan D. Schwartz, José C. Segovia
Journal: Blood
Blood (2022) 140 (Supplement 1): 4902–4903.
https://doi.org/10.1182/blood-2022-170948
Published: 2022
Journal Articles

Lentiviral Mediated Gene Therapy for Pyruvate Kinase Deficiency: Interim Results of a Global Phase 1 Study for Adult and Pediatric Patients

Ami J Shah, José Luis López Lorenzo, Susana Navarro, Julián Sevilla, Lucía Llanos, Begoña Pérez de Camino Gaisse, Sol Sanchez, Bert Glader, May Chien, Oscar Quintana Bustamante, Brian C Beard, Kenneth M Law, Miriam Zeini, Grace Choi, Eileen Nicoletti, Gayatri R Rao, Maria Grazia Roncarolo, Juan A Bueren, Jonathan D Schwartz, José C Segovia
Journal: Blood
Blood (2021) 138 (Supplement 1): 563.
https://doi.org/10.1182/blood-2021-148161
Published: 2021
Journal Articles

Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II

Mercedes Dessy-Rodriguez, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payan, Cristian Tornador, Gonzalo Hernández, Paola Bianchi, Mayka Sanchez, Juan Carlos Ramirez, José C Segovia, Oscar Quintana Bustamante
Journal: Blood
Blood (2021) 138 (Supplement 1): 1994.
https://doi.org/10.1182/blood-2021-152332
Published: 2021
Journal Articles

Lentiviral Mediated Gene Therapy for Pyruvate Kinase Deficiency: A Global Phase 1 Study for Adult and Pediatric Patients

José Luis López Lorenzo, MD, Susana Navarro, PhD, Ami J Shah, MD, Maria Grazia Roncarolo, MD, Julián Sevilla, MD PhD, Lucía Llanos, MD PhD, Begoña Pérez Camino de Gaisse, MD, Sol Sanchez, MD, Bertil Glader, MD PhD, May Chien, MD, Oscar Quintana Bustamante, PhD, Brian C Beard, PhD, Kenneth M Law, PhD, Miriam Zeini, PhD, Grace Choi, BS, Eileen Nicoletti, MD, Juan A Bueren, PhD, Gayatri R Rao, MD JD, Jonathan D Schwartz, MD, José C Segovia, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 47.
https://doi.org/10.1182/blood-2020-137246
Published: 2020
Journal Articles

Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells

Mercedes Dessy-Rodriguez, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payán-Pernía, Cristian Tornador, Gonzalo Hernandez, Mayka Sanchez, José C Segovia, PhD, Oscar Quintana Bustamante, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 27.
https://doi.org/10.1182/blood-2020-139207
Published: 2020
Journal Articles

Correction of the Energetic Defects in Pyruvate Kinase Deficiency through Genome Editing in Hematopoietic Stem and Progenitor Cells

Sara Fañanas-Baquero, Oscar Quintana Bustamante, PhD, Daniel P. Dever, PhD, Omaira Alberquilla, Rebeca Sanchez-Dominguez, PhD, Joab Camarena, BS, Rolf Turk, José Luis López Lorenzo, MD, Paola Bianchi, BSc, PhD, Mark Behlke, MD PhD, Juan A Bueren, PhD, Matt Porteus, MD PhD, José C Segovia, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 29.
https://doi.org/10.1182/blood-2020-139117
Published: 2020
Journal Articles

Hematopoietic Engraftment of Fanconi Anemia Patients through 3 Years after Gene Therapy

Paula Rio, PhD, Susana Navarro, PhD, Rebeca Sanchez-Dominguez, PhD, Jose C Segovia, PhD, Wei Wang, PhD, Eva Merino, Rosa M Yañez, PhD, Jose Antonio Casado, PhD, Yari A. Gimenez, Francisco J Roman-Rodriguez, PhD, Omaira Alberquilla, Eva Galvez, MD, Raquel Hladun, MD, Jordi Barquinero, PhD, Anne Galy, PharmD, PhD, Nagore García de Andoín, MD, Ricardo López, MD PhD, Albert Catalá, MD PhD, Marina Cavazzana, Francois Lefrere, MD, Thierry Leblanc, MD, Jonathan D Schwartz, MD, Roser Pujol, PhD, Jordi Surrallés, PhD, Jean Soulier, MD PhD, Manfred Schmidt, PhD, Cristina Díaz de Heredia, MD PhD, Julian Sevilla, MD PhD, Juan A. Bueren, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4627.
https://doi.org/10.1182/blood-2019-129686
Published: 2019
Journal Articles

Advances in the Gene Therapy of Patients with Fanconi Anemia

Juan A. Bueren, PhD, Susana Navarro, PhD, Wei Wang, PhD, Rebeca Sanchez-Dominguez, PhD, Eva Merino, Jose C Segovia, PhD, Anne Galy, PharmD, PhD, María L. Lamana, MD PhD, Rosa M Yañez, PhD, Jose A Casado, PhD, Yari A. Gimenez, Francisco J Roman-Rodriguez, Lara A. Alvarez, Roser Pujol, PhD, Jordi Surralles, PhD, Ricardo López, MD PhD, Nagore García de Andoín, MD, Albert Catala, MD PhD, Eva Galvez, MD, Raquel Hladun, MD, Jonathan D Schwartz, MD, Manfred Schmidt, PhD, Cristina Díaz de Heredia, MD PhD, Paula Rio, PhD, Julian Sevilla, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1022.
https://doi.org/10.1182/blood-2018-99-111160
Published: 2018
Journal Articles

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

Oscar Quintana Bustamante, PhD, Sara Fañanas-Baquero, Daniel P. Dever, PhD, Alberquilla Omaira, Joab Camarena, BS, Rebeca Sanchez-Dominguez, PhD, Matias Morin, Val Fernandez, Miguel Angel Moreno-Pelayo, Juan A. Bueren, PhD, Matthew Porteus, MD PhD, Jose C Segovia, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 5792.
https://doi.org/10.1182/blood-2018-99-111772
Published: 2018
Journal Articles

Estrogens Enhance Human Hematopoietic Stem Cell Engraftment in a Xenogenic Transplantation Model

Sara Fañanas-Baquero, Israel Orman, Federico Becerra Aparicio, Silvia Bermudez de Miguel, Jordi Garcia Merino, Rosa M Yañez, PhD, Yolanda Fernandez, David Alfaro, Agustin Zapata, Juan A. Bueren, PhD, Jose C Segovia, PhD, Oscar Quintana Bustamante, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 2042.
https://doi.org/10.1182/blood-2018-99-112104
Published: 2018
Journal Articles

Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34 + cells from Fanconi anemia patients

Paula Río, Susana Navarro, Guillermo Guenechea, Rebeca Sánchez-Domínguez, Maria Luisa Lamana, Rosa Yañez, Jose A. Casado, Parinda A. Mehta, Maria Roser Pujol, Jordi Surrallés, Sabine Charrier, Anne Galy, José C. Segovia, Cristina Díaz de Heredia, Julián Sevilla, Juan A. Bueren
Journal: Blood
Blood (2017) 130 (13): 1535–1542.
https://doi.org/10.1182/blood-2017-03-774174
Published: 2017
Includes: Supplemental data
Journal Articles

Gene Editing of the Human Pklr Gene in Human Hematopoietic Progenitors to Correct Pyruvate Kinase Deficiency

Oscar Quintana-Bustamante, Sara Fañanas, Israel Orman, Agnès Gouble, PhD, Roman Galetto, PhD, Laurent Poirot, PhD, Juan A. Bueren, PhD, Jose C. Segovia, PhD
Journal: Blood
Blood (2016) 128 (22): 3513.
https://doi.org/10.1182/blood.V128.22.3513.3513
Published: 2016
Journal Articles

In vivo proliferation advantage of genetically corrected hematopoietic stem cells in a mouse model of Fanconi anemia FA-D1

Paula Río, Néstor W. Meza, África González-Murillo, Susana Navarro, Lara Álvarez, Jordi Surrallés, Maria Castella, Guillermo Guenechea, José C. Segovia, Helmut Hanenberg, Juan A. Bueren
Journal: Blood
Blood (2008) 112 (13): 4853–4861.
https://doi.org/10.1182/blood-2008-05-156356
Published: 2008
Journal Articles

Relationship between the Hematopoietic Phenotype and the Subtype of Fanconi Anemia Mice.

Susana Navarro, PhD, Paula Rio, Ph.D, Nestor W. Meza, Ph.D, Raquel Chinchon, Bsc, Jose C. Segovia, Ph.D, Juan A. Bueren, Ph.D
Journal: Blood
Blood (2007) 110 (11): 2447.
https://doi.org/10.1182/blood.V110.11.2447.2447
Published: 2007
Journal Articles

Development of Efficent Gene Therapy for the Treatment of Erythrocyte Pyruvate Kinase Deficiency.

Nestor W. Meza, Ph.D., Maria Eugenia Alonso, Susana Navarro, Ph.D, Guillermo Guenechea, Ph.D, Oscar Quintana-Bustamante, Ph.D, Maria Garcia-Gomez, Juan A. Bueren, Ph.D, Jose M. Bautista, Ph.D, Jose C. Segovia, PhD
Journal: Blood
Blood (2007) 110 (11): 2584.
https://doi.org/10.1182/blood.V110.11.2584.2584
Published: 2007
Journal Articles

Increased Generation of Hepatocytes Expressing Bone Marrow-Derived Markers after Hematopoietic Progenitors’ Mobilization in a Murine Model of Hepatic Damage.

Oscar Quintana-Bustamante Fellow, Alberto Alvarez-Barrientos, PhD, Isabel Fabregat, PhD, Juan A. Bueren, PhD, Jose C. Segovia, PhD
Journal: Blood
Blood (2004) 104 (11): 3600.
https://doi.org/10.1182/blood.V104.11.3600.3600
Published: 2004
Journal Articles

Gene Therapy of the Human Erythrocyte Pyruvate Kinase Deficiency.

Jose C. Segovia, PhD, Nestor W. Meza Fellow, Oscar Quintana-Bustamante Fellow, Antonio Puyet, PhD, Paula Rio, PhD, Juan A. Bueren, PhD, Jose M. Bautista, PhD
Journal: Blood
Blood (2004) 104 (11): 1635.
https://doi.org/10.1182/blood.V104.11.1635.1635
Published: 2004