JS
J. C. Segovia
Genetic TherapyHematopoietic Stem Cell TransplantationHematopoietic Stem CellsHematopoietic stem cellsgene therapyGenetic Vectorspyruvate kinase deficiencyCellular ReprogrammingFanconi anemiagene editing
On Valency
published · living versionsW_mkdvkprepublished
Preprints & journals
122 papers in the corpus · 1991–2025Metabolic Rigidity as a Mechanical Barrier to Malaria: Flickering Loss in PKLR-Deficient Erythrocytes.41258954 · Hernando-Ospina, Natalia, Calero, Macarena, Solís, Guillermo et al.2025 · 1 citationFASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2025;39(22):e71234
A presumed mouse parvovirus with overlooked high toxicity for human primitive CD34+ hematopoietic precursors in vitro and in bone marrow-humanized mice.41143413 · Segovia, José C, Ramírez, Juan C, Río, Paula et al.2026 · 0 citationsMicrobiology spectrum. 2025;13(12):e0233925
Harnessing DNA barcoding to enhance and sustain polyclonality in gene-edited hematopoietic stem cells.41245217 · Ojeda-Perez, Isabel, Bustos, Andrés, Selvaraj, Sridhar et al.2025 · 2 citationsMolecular therapy. Methods & clinical development. 2025;33(4):101615
GPR41 and GPR43 modulate rodent pancreatic α-cell function and growth.40818660 · Sánchez-Roncero, A, Fernández-Marcelo, T, Pérez-Serna, A A et al.2025 · 2 citationsLife sciences. 2025;379:123913
HSC engraftment is enhanced by combining mobilization with anti-C-Kit and Anti-CD47-based conditioning in hematopoietic transplant.40676835 · Ojeda-Perez, Isabel, Alberquilla-Fernandez, Omaira, García-Torralba, Aida et al.2025 · 4 citationsMolecular therapy : the journal of the American Society of Gene Therapy. 2025;33(10):5044-5060
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.39642902 · Río, Paula, Zubicaray, Josune, Navarro, Susana et al.2024 · 31 citationsLancet (London, England). 2025;404(10471):2584-2592
Effect of virgin olive oil as spreadable preparation on atherosclerosis compared to dairy butter in Apoe-deficient mice.38787512 · Martínez-Beamonte, Roberto, Barranquero, Cristina, Gascón, Sonia et al.2024 · 6 citationsJournal of physiology and biochemistry. 2024;80(3):671-683
Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.38775150 · Giménez, Yari, Palacios, Manuel, Sánchez-Domínguez, Rebeca et al.2024 · 15 citationsJCI insight. 2024;9(10)
Restored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.38577102 · Nieto-Romero, Virginia, García-Torralba, Aida, Molinos-Vicente, Andrea et al.2024 · 13 citationsiScience. 2024;27(4):109530
A human genome editing-based MLL::AF4 ALL model recapitulates key cellular and molecular leukemogenic features.37756522 · Bueno, Clara, Torres-Ruiz, Raul, Velasco-Hernandez, Talia et al.2024 · 9 citationsBlood. 2023;142(20):1752-1756
Soluble mutant huntingtin drives early human pathogenesis in Huntington's disease.37535170 · Miguez, Andrés, Gomis, Cinta, Vila, Cristina et al.2023 · 36 citationsCellular and molecular life sciences : CMLS. 2023;80(8):238
Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL.37264982 · Lahera, Antonio, Vela-Martín, Laura, López-Nieva, Pilar et al.2023 · 5 citationsBritish journal of haematology. 2023;202(3):693-698
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.37188156 · Fañanas-Baquero, Sara, Morín, Matías, Fernández, Sergio et al.2023 · 3 citationsFrontiers in genome editing. 2023;5:1104666
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.36200420 · Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia et al.2023 · 8 citationsHaematologica. 2023;108(2):581-587
Lack of EGFR catalytic activity in hepatocytes improves liver regeneration following DDC-induced cholestatic injury by promoting a pro-restorative inflammatory response.36148647 · Lazcanoiturburu, Nerea, García-Sáez, Juan, González-Corralejo, Carlos et al.2022 · 18 citationsThe Journal of pathology. 2022;258(3):312-324
Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.35671096 · Casado, José A, Valeri, Antonio, Sanchez-Domínguez, Rebeca et al.2022 · 6 citationsThe Journal of clinical investigation. 2022;132(15)
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.35767453 · Shah, Ami J, Schwartz, Jonathan D, Segovia, Jose C2022 · 2 citationsThe New England journal of medicine. 2022;386(26):2538-2539
Efficient and Fast Generation of Relevant Disease Mouse Models by In Vitro and In Vivo Gene Editing of Zygotes.35686982 · Sanchez-Baltasar, Raquel, Garcia-Torralba, Aida, Nieto-Romero, Virginia et al.2022 · 5 citationsThe CRISPR journal. 2022;5(3):422-434
Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations.35628611 · Serrano, Luis Javier, Garcia-Arranz, Mariano, De Pablo-Moreno, Juan A et al.2022 · 6 citationsInternational journal of molecular sciences. 2022;23(10)
Gene Editing for Inherited Red Blood Cell Diseases.35418876 · Quintana-Bustamante, Oscar, Fañanas-Baquero, Sara, Dessy-Rodriguez, Mercedes et al.2024 · 16 citationsFrontiers in physiology. 2022;13:848261
Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.34989415 · Schwartz, Jonathan D, Barcellini, Wilma, Grace, Rachel F et al.2022 · 4 citationsAmerican journal of hematology. 2022;97(3):E120-E125
Generation of NKX2.5GFP Reporter Human iPSCs and Differentiation Into Functional Cardiac Fibroblasts.35127713 · López-Muneta, Leyre, Linares, Javier, Casis, Oscar et al.2022 · 7 citationsFrontiers in cell and developmental biology. 2021;9:797927
Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment.34514027 · Navarro, Susana, Quintana-Bustamante, Oscar, Sanchez-Dominguez, Rebeca et al.2021 · 8 citationsMolecular therapy. Methods & clinical development. 2021;22:350-359
Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.34485595 · Sevilla, Julián, Navarro, Susana, Rio, Paula et al.2021 · 24 citationsMolecular therapy. Methods & clinical development. 2021;22:66-75
Natural estrogens enhance the engraftment of human hematopoietic stem and progenitor cells in immunodeficient mice.32354868 · Fañanas-Baquero, Sara, Orman, Israel, Becerra Aparicio, Federico et al.2021 · 25 citationsHaematologica. 2021;106(6):1659-1670
Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.34485608 · Fañanas-Baquero, Sara, Quintana-Bustamante, Oscar, Dever, Daniel P et al.2021 · 22 citationsMolecular therapy. Methods & clinical development. 2021;22:237-248
The Current Status of Mesenchymal Stromal Cells: Controversies, Unresolved Issues and Some Promising Solutions to Improve Their Therapeutic Efficacy.33796536 · García-Bernal, David, García-Arranz, Mariano, Yáñez, Rosa M et al.2021 · 138 citationsFrontiers in cell and developmental biology. 2021;9:650664
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10.33579367 · Hervás-Salcedo, Rosario, Fernández-García, María, Hernando-Rodríguez, Miriam et al.2021 · 39 citationsStem cell research & therapy. 2021;12(1):124
In vivo progressive degeneration of Huntington's disease patient-derived neurons reveals human-specific pathological phenotypes10.1101/2020.10.21.347062v1 · Miguez, A., Fernandez-Garcia, S., Monguio-Tortajada, M. et al.2020 · 0 citationsbioRxiv
In Vitro and In Vivo Genetic Disease Modeling via NHEJ-Precise Deletions Using CRISPR-Cas9.33294491 · López-Manzaneda, Sergio, Ojeda-Pérez, Isabel, Zabaleta, Nerea et al.2020 · 11 citationsMolecular therapy. Methods & clinical development. 2020;19:426-437
In vivo CRISPR/Cas9 targeting of fusion oncogenes for selective elimination of cancer cells.33033246 · Martinez-Lage, M, Torres-Ruiz, R, Puig-Serra, P et al.2020 · 117 citationsNature communications. 2020;11(1):5060
Human Pluripotent Stem Cell-Derived Neurons Are Functionally Mature In Vitro and Integrate into the Mouse Striatum Following Transplantation.32356172 · Comella-Bolla, Andrea, Orlandi, Javier G, Miguez, Andrés et al.2021 · 34 citationsMolecular neurobiology. 2020;57(6):2766-2798
The downregulated membrane expression of CD18 in CD34+ cells defines a primitive population of human hematopoietic stem cells.32345365 · Mesa-Núñez, Cristina, Leon-Rico, Diego, Aldea, Montserrat et al.2021 · 5 citationsStem cell research & therapy. 2020;11(1):164
Midkine signaling maintains the self-renewal and tumorigenic capacity of glioma initiating cells.32308772 · López-Valero, Israel, Dávila, David, González-Martínez, José et al.2021 · 50 citationsTheranostics. 2020;10(11):5120-5136
Targeted gene therapy into a safe harbor site in human hematopoietic progenitor cells.32218505 · Rodriguez-Fornes, Fatima, Quintana-Bustamante, Oscar, Lozano, M Luz et al.2021 · 3 citationsGene therapy. 2020;27(9):435-450
IKKβ overexpression together with a lack of tumour suppressor genes causes ameloblastic odontomas in mice.31900382 · Page, Angustias, Bravo, Ana, Suarez-Cabrera, Cristian et al.2020 · 92 citationsInternational journal of oral science. 2020;12(1):1
Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA.31618280 · Quintana-Bustamante, Oscar, Fañanas-Baquero, Sara, Orman, Israel et al.2020 · 26 citationsPloS one. 2019;14(10):e0223775
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.31501599 · Río, Paula, Navarro, Susana, Wang, Wei et al.2019 · 167 citationsNature medicine. 2019;25(9):1396-1401
Advances in the gene therapy of monogenic blood cell diseases.31231794 · Bueren, Juan A, Quintana-Bustamante, Oscar, Almarza, Elena et al.2021 · 27 citationsClinical genetics. 2020;97(1):89-102
c-Met Signaling Is Essential for Mouse Adult Liver Progenitor Cells Expansion After Transforming Growth Factor-β-Induced Epithelial-Mesenchymal Transition and Regulates Cell Phenotypic Switch.31108004 · Almalé, Laura, García-Álvaro, María, Martínez-Palacián, Adoración et al.2020 · 23 citationsStem cells (Dayton, Ohio). 2019;37(8):1108-1118
Premature aging and cancer development in transgenic mice lacking functional CYLD.30631004 · Alameda, Josefa P, Ramírez, Ángel, García-Fernández, Rosa A et al.2020 · 15 citationsAging. 2019;11(1):127-159
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.30358897 · Bianchi, Paola, Fermo, Elisa, Glader, Bertil et al.2019 · 97 citationsAmerican journal of hematology. 2019;94(1):149-161
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.29242305 · van Straaten, Stephanie, Bierings, Marc, Bianchi, Paola et al.2019 · 59 citationsHaematologica. 2018;103(2):e82-e86
Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34+ cells from Fanconi anemia patients.28801449 · Río, Paula, Navarro, Susana, Guenechea, Guillermo et al.2017 · 55 citationsBlood. 2017;130(13):1535-1542
Highly efficient genome editing of human hematopoietic stem cells via a nano-silicon-blade delivery approach.28513735 · Ma, Yuan, Han, Xin, Quintana Bustamante, Oscar et al.2018 · 38 citationsIntegrative biology : quantitative biosciences from nano to macro. 2017;9(6):548-554
IKKβ-Mediated Resistance to Skin Cancer Development Is Ink4a/Arf-Dependent.28584022 · Page, Angustias, Bravo, Ana, Suarez-Cabrera, Cristian et al.2018 · 11 citationsMolecular cancer research : MCR. 2017;15(9):1255-1264
Comparative analysis of the immunomodulatory capacities of human bone marrow- and adipose tissue-derived mesenchymal stromal cells from the same donor.27637760 · Valencia, Jaris, Blanco, Belén, Yáñez, Rosa et al.2017 · 94 citationsCytotherapy. 2016;18(10):1297-311
Silencing of hepatic fate-conversion factors induce tumorigenesis in reprogrammed hepatic progenitor-like cells.27460218 · Serrano, Felipe, García-Bravo, Maria, Blazquez, Marina et al.2016 · 12 citationsStem cell research & therapy. 2016;7(1):96
Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects.27396937 · Laskowski, Tamara J, Van Caeneghem, Yasmine, Pourebrahim, Rasoul et al.2017 · 48 citationsStem cell reports. 2016;7(2):139-48
Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.27095005 · García, Marta, Quintana-Bustamante, Oscar, Segovia, José C et al.2018 · 4 citationsExperimental dermatology. 2016;25(9):736-8
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