Publications - Terapias innovadoras
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The gray boundaries of aberrant shortening of the cellular timekeepers’ edges
Authors: Guillermo Guenechea; Nestor W Meza
Journal: EMBO Molecular Medicine. 2024 Ago 28
DOI: 10.1038/s44321-024-00122-1
Study of the Effect of Wild-Type and Transiently Expressing CXCR4 and IL-10 Mesenchymal Stromal Cells in a Mouse Model of Peritonitis
Authors: Garcia Gómez-Heras, S., Garcia-Arranz, M., Vega-Clemente, L., Olivera-Salazar, R., Vélez Pinto, J. F., Fernández-García, M., Guadalajara, H., Yáñez, R., & Garcia-Olmo, D.
Journal: International Journal of Molecular Sciences, 25(1). (2024)
DOI: 10.3390/ijms25010520
Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia
Authors: Giménez Y, Palacios M, Sánchez-Domínguez R, Zorbas C, Peral J, Puzik A, Ugalde L, Alberquilla O, Villanueva M, Río P, Gálvez E, Da Costa L, Strullu M, Catala A, Ruiz-Llobet A, Segovia JC, Sevilla J, Strahm B, Niemeyer CM, Beléndez C, Leblanc T, Lafontaine DL, Bueren J, Navarro.
Journal: S.JCI Insight. 2024 May 22;9(10)
DOI: 10.1172/jci.insight.171650
Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo
Authors: Díez-Alonso L, Falgas A, Arroyo-Ródenas J, Romencín PA, Martínez A, Gómez-Rosel M, Blanco B, Jiménez-Reinoso A, Mayado A, Pérez-Pons A, Aguilar-Sopeña Ó, Ramírez-Fernández Á, Segura-Tudela A, Perez-Amill L, Tapia-Galisteo A, Domínguez-Alonso C, Rubio-Pérez L, Jara M, Solé F, Hangiu O, Almagro L, Albitre Á, Penela P, Sanz L, Anguita E, Valeri A, García-Ortiz A, Río P, Juan M, Martínez-López J, Roda-Navarro P, Martín-Antonio B, Orfao A, Menéndez P, Bueno C, Álvarez-Vallina L.
Journal: Sci Transl Med. 2024 Feb 14;16(734)
DOI: 10.1126/scitranslmed.adg7962
Corrigendum: MSC therapy ameliorates experimental gouty arthritis hinting an early COX-2 induction
Authors: Medina, J. P., Bermejo-Álvarez, I., Pérez-Baos, S., Yáñez, R., Fernández-García, M., García-Olmo, D., Mediero, A., Herrero-Beaumont, G., & Largo, R
Journal: Front. Immunol., (2023), 14, 1193179;
DOI: 10.3389/fimmu.2023.1345777
Detection of the Uveal Melanoma-Associated Mutation GNAQ Q209P from Liquid Biopsy Using CRISPR/Cas12a
Authors: Escalona-Noguero, C., Alarcón-Iniesta, H., López-Valls, M., del Carpio, L. P., Piulats, J. M., Somoza, Á., & Sot, B.
Journal: Analytical Chemistry, 95(45), 16692–16700. 2023
DOI: 10.1021/acs.analchem.3c03460
A human genome editing–based MLL: AF4 ALL model recapitulates key cellular and molecular leukemogenic features
Authors: Bueno, C., Torres-Ruiz, R., Velasco-Hernandez, T., Molina, O., Petazzi, P., Martinez, A., Rodriguez, V., Vinyoles, M., Cantilena, S., Williams, O., Vega-Garcia, N., Rodriguez-Perales, S., Segovia, J. C., Quintana-Bustamante, O., Roy, A., Meyer, C., Marschalek, R., Smith, A. L., Milne, T. A., … Menéndez, P.
Journal: Blood, 142(20), 1752–1756. 2023
DOI: 10.1182/blood.2023020858
MSC therapy ameliorates experimental gouty arthritis hinting an early COX-2 induction
Authors: Medina, J. P., Bermejo-Alvarez, I., Perez-Baos, S., Yanez, R., Fernandez-Garcia, M., Garcia-Olmo, D., Mediero, A., Herrero-Beaumont, G., & Largo, R.
Journal: Front Immunol, 14, 1193179. 2023
DOI: 10.3389/fimmu.2023.1193179
Access to gene therapy for rare diseases when commercialization is not fit for purpose
Authors: Fox, T., Bueren, J., Candotti, F., Fischer, A., Aiuti, A., Lankester, A., Initiative, A., & Booth, C.
Journal: Nat Med. 2023
DOI: 10.1038/s41591-023-02208-8
Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia
Authors: Lasaga, M., Rio, P., Vilas-Zornoza, A., Planell, N., Navarro, S., Alignani, D., Fernandez-Varas, B., Mouzo, D., Zubicaray, J., Pujol, R. M., Nicoletti, E., Schwartz, J. D., Sevilla, J., Ainciburi, M., Ullate-Agote, A., Surralles, J., Perona, R., Sastre, L., Prosper, F., … Bueren, J. A.
Journal: Haematologica, 2023
DOI: 10.3324/haematol.2022.282418
Clustered regularly interspaced short palindromic repeats/Cas9-mediated gene editing. A promising strategy in hematological disorders
Authors: Ugalde, L., Fananas, S., Torres, R., Quintana-Bustamante, O., & Rio, P.
Journal: Cytotherapy, 25(3), 277–285. 2023
DOI: 10.1016/j.jcyt.2022.11.014
A new age of precision gene therapy
Authors: Schambach, A., Buchholz, C. J., Torres-Ruiz, R., Cichutek, K., Morgan, M., Trapani, I., & Buning, H.
Journal: Lancet. 2023
DOI: 10.1016/S0140-6736(23)01952-9
Expression of HMGCS2 in intestinal epithelial cells is downregulated in inflammatory bowel disease associated with endoplasmic reticulum stress
Authors: Martin-Adrados, B., Wculek, S. K., Fernandez-Bravo, S., Torres-Ruiz, R., Valle-Noguera, A., Gomez-Sanchez, M. J., Hernandez-Walias, J. C., Ferreira, F. M., Corraliza, A. M., Sancho, D., Esteban, V., Rodriguez-Perales, S., Cruz-Adalia, A., Nakaya, H. I., Salas, A., Bernardo, D., Campos-Martin, Y., Martinez-Zamorano, E., Munoz-Lopez, D., … Martinez-Naves, E.
Journal: Front Immunol, 14, 1185517. 2023
DOI: 10.3389/fimmu.2023.1185517
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides
Authors: Fañanas-Baquero, S., Morín, M., Fernández, S., Ojeda-Perez, I., Dessy-Rodriguez, M., Giurgiu, M., Bueren, J. A., Moreno-Pelayo, M. A., Segovia, J. C., & Quintana-Bustamante, O.
Journal: Frontiers in Genome Editing, 5. 2023
DOI: 10.3389/fgeed.2023.1104666
Advances and Challenges in the Development of Gene Therapy Medicinal Products for Rare Diseases
Authors: Bueren, J. A., & Auricchio, A.
Journal: HUMAN GENE THERAPY, 34(17–18), 763–775. 2023
DOI: 10.1089/hum.2023.152
Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL
Authors: Lahera, A., Vela-Martin, L., Lopez-Nieva, P., Salgado, R. N., Rodriguez-Perales, S., Torres-Ruiz, R., Lopez-Lorenzo, J. L., Cornago, J., Llamas, P., Fernandez-Navarro, P., Sanchez-Dominguez, R., Segovia, J. C., Sastre, I., Cobos-Fernandez, M. A., Menendez, P., Santos, J., Fernandez-Piqueras, J., & Villa-Morales, M.
Journal: Br J Haematol, 202(3), 693–698. 2023
DOI: 10.1111/bjh.1890
Improved efficacy of mesenchymal stromal cells stably expressing CXCR4 and IL-10 in a xenogeneic graft versus host disease mouse model
Authors: Hervás-Salcedo, R., Fernández-García, M., Hernando-Rodríguez, M., Suárez-Cabrera, C., Bueren, J. A., & Yáñez, R. M. Journal: Frontiers in Immunology, 14. 2023
DOI: 10.3389/fimmu.2023.1062086
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
Authors: Cavazza, A., Hendel, A., Bak, R. O., Rio, P., Guell, M., Lainscek, D., Arechavala-Gomeza, V., Peng, L., Hapil, F. Z., Harvey, J., Ortega, F. G., Gonzalez-Martinez, C., Lederer, C. W., Mikkelsen, K., Gasiunas, G., Kalter, N., Goncalves, M., Petersen, J., Garanto, A., … CA, C. A.
Journal: Mol Ther Nucleic Acids, 34, 102066. 2023
DOI: 10.1016/j.omtn.2023.102066
Nanomedical research and development in Spain: improving the treatment of diseases from the nanoscale
Authors: Fernández-Gómez, P., Pérez de la Lastra Aranda, C., Tosat-Bitrián, C., Bueso de Barrio, J. A., Thompson, S., Sot, B., Salas, G., Somoza, Á., Espinosa, A., Castellanos, M., & Palomo, V.
Journal: Frontiers in Bioengineering and Biotechnology, 11(July). 2023
DOI: 10.3389/fbioe.2023.1191327
Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells.
Authors: Siegner SM et al
Journal: Nat Commun. 2022
DOI: 10.1038/s41467-022-34479-z
Enforced mesenchymal stem cell tissue colonization counteracts immunopathology
Authors: García-Bernal D. et al
Journal: NPJ Regen Med. 2022 Oct
DOI: 10.1038/s41536-022-00258-z.
Assessment of mesenchymal stem/stromal cell-based therapy in K/BxN serum transfer-induced arthritis.
Authors: Lopez-Santalla M et al
Journal: Front Immunol. 2022 Oct
DOI: 10.3389/fimmu.2022.943293
Preclinical safety and efficacy of lentiviral-mediated gene therapy for leukocyte adhesion deficiency type I
Authors: Mesa-Núñez, Cristina et al
Journal: Molecular Therapy - Methods & Clinical Development. 2022 Sep
DOI: 10.1016/j.omtm.2022.07.015
Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia
Authors: Casado, J. A. et al
Journal: J Clin Invest. 2022 Aug
DOI: 10.1172/JCI142842
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Authors: Luque, J. et al
Journal: Clin Genet. 2022 May
DOI: 10.1111/cge.14113.
Gene Editing for Inherited Red Blood Cell Diseases
Authors: Quintana-Bustamante, O. et al
Journal: Frontiers in Physiology. 2022 Mar
DOI: 10.3389/fphys.2022.848261
Comparative proteomic analysis of nuclear and cytoplasmic compartments in human cardiac progenitor cells
Authors: Albericio G. et al
Journal: Sci Rep. 2022 Jan
DOI: 10.1038/s41598-021-03956-8.
Translational research for bone marrow failure patients
Authors: Malouf,C. et al
Journal: Exp Hematol. 2022 Jan
DOI: 10.1016/j.exphem.2021.11.004.
Generation of NKX2.5(GFP) Reporter Human iPSCs and Differentiation Into Functional Cardiac Fibroblasts
Authors: Lopez-Muneta, L. et al
Journal: Front Cell Dev Biol. 2022 Jan
DOI: 10.3389/fcell.2021.797927.
Authors: Lopez-Santalla M. et al
Biomedicines. 2021 Oct
DOI: 10.3390/biomedicines9111507
Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment
Autores: Navarro, S. et al
Revista y Año: Mol Ther Methods Clin Dev. 2021 Jul
DOI: 10.1016/j.omtm.2021.07.006.
Mechanism of Immunoregulatory Properties of Vasoactive Intestinal Peptide in the K/BxN Mice Model of Autoimmune Arthritis
Authors: Leceta, J, et al
Frontiers in Immunology. 2021 Jul
DOI: 10.3389/fimmu.2021.701862
Mesenchymal stem/stromal cell-based therapy for the treatment of rheumatoid arthritis: An update on preclinical studies
Authors: Lopez-Santalla, M, et al.
EBioMedicine. 2021 Jun.
DOI: 10.1016/j.ebiom.2021.103427.
Enhanced Susceptibility of Galectin-1 Deficient Mice to Experimental Colitis
Authors: Fernandez-Perez, Raquel, et al.
Frontiers in Immunology. 2021 Jun.
DOI: 10.3389/fimmu.2021.687443
Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia
Authors: Errazquin, Ricardo, et al.
Genes. 2021 Mar.
DOI: 10.3390/genes12040548
GSE4-loaded nanoparticles a potential therapy for lung fibrosis that enhances pneumocyte growth, reduces apoptosis and DNA damage
Authors: Laura Pintado Berniches, et al.
Faseb Journal. 2021 Mar;35(3):e21422..
DOI: 10.1096/fj.202001160RR
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
Authors: Eva Gálvez, et al.
Hemasphere. 2021 Mar 9;5(4):e539.
DOI: 10.1097/HS9.0000000000000539
The Current Status of Mesenchymal Stromal Cells: Controversies, Unresolved Issues and Some Promising Solutions to Improve Their Therapeutic Efficacy
Authors: García-Bernal D, et al.
Front. Cell Dev. Biol. 9:650664 (2021).
DOI: 10.3389/fcell.2021.650664
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10
Authors: Hervás-Salcedo R, et al.
Stem Cell Res Ther 2021 Feb 12;12(1):124.
DOI: 10.1186/s13287-021-02193-0
Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1
Authors: Carrascoso-Rubio C, et al.
Stem Cell Res Ther 2021 Jan 29;12(1):92.
DOI: 10.1186/s13287-021-02145-8
Targeted gene therapy into a safe harbor site in human hematopoietic progenitor cells
Authors: Rodriguez-Fornes, F.. et al.
Gene Ther. 2020 Sep;27(9):435-450
DOI: 10.1038/s41434-020-0144-x
Theranostic Viral Nanoparticles for Autoimmune Diseases.
Authors: Yuste-Calvo, C.. et al.
J Immuno Biol Volume 5:1, 2020
DOI: 10.37421/JIB.2020.5.149
Mesenchymal Stem/Stromal Cells for Rheumatoid Arthritis Treatment: An Update on Clinical Applications
Authors: Lopez-Santalla, M. et al.
Cells. 2020 Aug 7;9(8).
DOI: 10.3390/cells9081852
Human Pluripotent Stem Cell-Derived Neurons Are Functionally Mature In Vitro and Integrate into the Mouse Striatum Following Transplantation.
Authors: Comella-Bolla, A.. et al.
Mol Neurobiol. 2020 Jun;57(6):2766-2798
DOI: 10.1007/s12035-020-01907-4
Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer
Authors: Montanuy, Helena. et al.
Clin Cancer Res 2020 Jun 15;26(12):3044-3057
DOI: 10.1158/1078-0432.ccr-19-1625
Cell Therapy With Mesenchymal Stem Cells Induces an Innate Immune Memory Response That Attenuates Experimental Colitis in the Long Term
Authors: Lopez-Santalla, M. et al.
Journal of Crohn's and Colitis, 2020, 1–12.
DOI: 10.1093/ecco-jcc/jjaa079
Natural estrogens enhance the engraftment of human hematopoietic stem and progenitor cells in immunodeficient mice.
Authors: Fañanas-Baquero, S. et al.
Haematologica. 2020 Apr 30.
DOI: 10.3324/haematol.2019.233924
The downregulated membrane expression of CD18 in CD34(+) cells defines a primitive population of human hematopoietic stem cells
Authors: Mesa-Nuñez, C. et al.
Stem Cell Res Ther. 2020 Apr 28;11(1):164.
DOI: 10.1186/s13287-020-01672-0
TALEN mediated gene editing in a mouse model of Fanconi anemia
Authors: Pino-Barrio, M. J. et al.
Sci Rep. 2020 Apr 24;10(1):6997
DOI: 10.1038/s41598-020-63971-z.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Authors: Bogliolo, M. et al.
Bogliolo M, et al. J Med Genet 2019;0:1–11.
DOI: 10.1136/jmedgenet-2019-106249
Helios modulates the maturation of a CA1 neuronal subpopulation required for spatial memory formation.
Authors: Giralt, A. et al.
Exp Neurol. 2020 Jan;323:113095.
DOI: 10.1016/j.expneurol.2019.113095
Authors: J. A. Bueren, O. Quintana-Bustamante, E. Almarza, S. Navarro, P. Río, J. C. Segovia and G. Guenechea
Clinical Genetics,31231794
doi:10.1111/cge.13593
Authors: Quintana-Bustamante, O. et al.
PLoS One. 2019 Oct 16;14(10):e0223775.
Inhibition of a G9a/DNMT network triggers immune-mediated bladder cancer regression
Authors: Segovia, C, et al.
Nature Medicine. 2019 Jul;25(7):1073-1081
Elongated Flexuous Plant Virus-Derived Nanoparticles Functionalized for Autoantibody Detection
Authors: Yuste-Calvo, C. Lopez-Santalla, M. Zurita, L.
Cruz-Fernandez, C. F. Sanchez, F. Garin, M. I.Ponz, F.
Nanomaterials (Basel). 2019 Oct 10;9(10)
Authors: Francisco Jose Román-Rodrıguez, Laura Ugalde, Lara A´ lvarez,Begoña Díez,María José Ramırez, Cristina Risueño, Marta Cortón, Massimo Bogliolo, Sara Bernal, Francesca March, Carmen Ayuso, Helmut Hanenberg, Julián Sevilla, Sandra Rodríguez-Perales, Raúl Torres-Ruíz, Jordi Surralles,
Juan Antonio Bueren and Paula Río
Cell Stem Cell 25, 1–15.
https://doi.org/10.1016/j.stem.2019.08.016
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia, Río, Navarro et al.,
Authors: Río, P., S. Navarro, W. Wang, R. Sánchez-Domínguez, R. M. Pujol, J. C. Segovia, M. Bogliolo, E. Merino, N. Wu, R. Salgado, M. L. Lamana, R. M. Yañez, J. A. Casado, Y. Giménez, F. J. Román-Rodríguez, L. Álvarez, O. Alberquilla, A. Raimbault, G. Guenechea, M. L. Lozano, L. Cerrato, M. Hernando, E. Gálvez, R. Hladun, I. Giralt, J. Barquinero, A. Galy, N. García de Andoín, R. López, A. Catalá, J. D. Schwartz, J. Surrallés, J. Soulier, M. Schmidt, C. Díaz de Heredia, J. Sevilla and J. A. Bueren (2019).
Nature Medicine 25(9): 1396-1401.
GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells
Authors: L. Pintado-Berninches, B. Fernandez-Varas, C. Benitez-Buelga, C. Manguan-Garcia, A. Serrano-Benitez, L. Iarriccio, J. Carrillo, G. Guenechea, S. P. Egusquiaguirre, J. L. Pedraz, R. M. Hernandez, M. Igartua, E. G. Arias-Salgado, F. Cortes-Ledesma, L. Sastre and R. Perona
Cell Death Differ,Jan 22,doi:10.1038/s41418-018-0272-7
c-Met Signaling Is Essential for Mouse Adult Liver Progenitor Cells Expansion After Transforming Growth Factor-beta-Induced Epithelial-Mesenchymal Transition and Regulates Cell Phenotypic Switch
Authors: L. Almale, M. Garcia-Alvaro, A. Martinez-Palacian, M. Garcia-Bravo, N. Lazcanoiturburu, A. Addante, C. Roncero, J. Sanz, O. L. M. de la, P. Bragado, W. Mikulits, V. M. Factor, S. S. Thorgeirsson, J. I. Casal, J. C. Segovia, E. Rial, I. Fabregat, B. Herrera and A. Sanchez
Stem Cells,May 20,doi:10.1002/stem.3038
Premature aging and cancer development in transgenic mice lacking functional CYLD
Authors: J. P. Alameda, A. Ramirez, R. A. Garcia-Fernandez, M. Navarro, A. Page, J. Segovia, R. Sanchez, C. Suarez-Cabrera, J. M. Paramio, A. Bravo, M. J. Fernandez-Aceñero and M. L. Casanova
AGING,11,127-159,pubmed:
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
Authors: P. Bianchi, E. Fermo, B. Glader, H. Kanno, A. Agarwal, W. Barcellini, S. Eber, J. D. Hoyer, D. J. Kuter, T. M. Maia, M. D. M. Manu-Pereira, T. A. Kalfa, S. Pissard, J. C. Segovia, E. van Beers, P. G. Gallagher, D. C. Rees, R. van Wijk and t. E. R. N. i. R. H. D. with the endorsement of EuroBloodNet
Am J Hematol,Jan,94,149-161,doi:10.1002/ajh.25325
Inhibitory Role of Growth Hormone in the Induction and Progression Phases of Collagen-Induced Arthritis
Authors: R. Villares, G. Criado, Y. Juarranz, M. Lopez-Santalla, E. M. García-Cuesta, J. M. Rodríguez-Frade, J. Leceta, P. Lucas, J. L. Pablos, C. Martínez-A, M. I. Garin, R. P. Gomariz and M. Mellado
Frontiers in Immunology, 2018 May 25,9, PMC5980961 doi:10.3389/fimmu.2018.01165
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.
Authors: V. Straaten, P. Bierings, P. Bianchi, K. Akiyoshi, H. Kanno, I. B. Serra, X. Chen, E. Huang, V. Beers, S. Ekwattaanakit, T. Gungor, W. A. Kors, F. Smiers, R. Raymakers, L. Yanez, J. Sevilla, V. Solinge, C. Segovia and V. Wijk
haematologica, PMC5792292 doi:10.3324/haematol.2017.177857
Advances in Gene Therapy for Fanconi Anemia
Authors: P. Rio, S. Navarro and J. A. Bueren
Hum Gene Ther,Oct,29,1114-1123,pubmed: 30117331 doi:10.1089/hum.2018.124
Comparative Analysis between the In Vivo Biodistribution and Therapeutic Efficacy of Adipose-Derived Mesenchymal Stromal Cells Administered Intraperitoneally in Experimental Colitis
M. Lopez-Santalla, P. Mancheno-Corvo, A. Escolano, R. Menta, O. Delarosa, J. M. Redondo, J. A. Bueren, W. Dalemans, E. Lombardo and M. I. Garin
Int J Mol Sci,Jun 23,19,PMC6073850 doi:10.3390/ijms19071853
Efficient Non-viral Gene Delivery into Human Hematopoietic Stem Cells by Minicircle Sleeping Beauty Transposon Vectors
Author: M. Holstein, C. Mesa-Nunez, C. Miskey, E. Almarza, V. Poletti, M. Schmeer, E. Grueso, J. C. Ordonez Flores, D. Kobelt, W. Walther, M. K. Aneja, J. Geiger, H. B. Bonig, Z. Izsvak, M. Schleef, C. Rudolph, F. Mavilio, J. A. Bueren, G. Guenechea and Z. Ivics
Mol Ther,Apr 4,26,1137-1153,pubmed: PMC6079369 doi:10.1016/j.ymthe.2018.01.012
Leukocyte adhesion deficiency-I: A comprehensive review of all published cases
Author: E. Almarza Novoa, S. Kasbekar, A. J. Thrasher, D. B. Kohn, J. Sevilla, T. Nguyen, J. D. Schwartz and J. A. Bueren J Allergy Clin Immunol Pract,Jul - Aug,6,1418-1420 e10,pubmed: doi:10.1016/j.jaip.2017.12.008
Improved Hematopoietic Gene Therapy in a Mouse Model of Fanconi Anemia Mediated by Mesenchymal Stromal Cells.
Authors: Fernández-García M, Luisa Lamana M, Hernando-Rodríguez M, Sánchez-Domínguez R, Bueren J, Yáñez R.
Hum Gene Ther; 2018 Mar. - PubMed; PMID: 28816065 Doi: 10.1089/hum.2017.076
Molecular Evidence of Genome Editing in a Mouse Model of Immunodeficiency
Authors: H. H. Abdul-Razak, C. J. Rocca, S. J. Howe, M. E. Alonso-Ferrero, J. Wang, R. Gabriel, C. C. Bartholomae, C. H. V. Gan, M. I. Garín, A. Roberts, M. P. Blundell, V. Prakash, F. J. Molina-Estevez, J. Pantoglou, G. Guenechea, M. C. Holmes, P. D. Gregory, C. Kinnon, C. von Kalle, M. Schmidt, J. A. Bueren, A. J. Thrasher and R. J. Yáñez-Muñoz
Scientific Reports,8,doi:10.1038/s41598-018-26439-9
Induced Pluripotency and Gene Editing in Fanconi Anemia
Authors: Navarro,S,Giorgetti, A, Raya, A., Tolar,J.
Curr Gene Ther; 2017 ;16(5):321-328 - PubMed; PMID: 28103772 Doi: 10.2174/1566523217666170118112050
Lessons Learned from Two Decades of Clinical Trial Experience in Gene Therapy for Fanconi Anemia.
Authors:Adair JE, Sevilla J, de Heredia CD, Becker PS, Kiem HP, Bueren J.A
Curr Gene Ther; 2017 Jan PubMed; PMID: 28103787 Doi: 10.2174/156652321766617011911 3029
Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34+cells from Fanconi anemia patients.
Authors: Río P, Navarro S, Guenechea G, Sánchez-Domínguez R, Lamana ML, Yáñez R, Casado JA, Mehta PA, Pujol MR, Surrallés J, Charrier S, Galy A, Segovia JC, Díaz de Heredia C, Sevilla J, Bueren JA
Blood; 2017 09. 130(13):1535-1542 PubMed; PMID: 28801449 Doi: 10.1182/blood-2017-03-774174
Measles virus envelope pseudotyped lentiviral vectors transduce quiescent human HSCs at an efficiency without precedent.
Authors: Lévy C, Amirache F, Girard-Gagnepain A, Frecha C, Roman-Rodríguez FJ, Bernadin O, Costa C, Nègre D, Gutierrez-Guerrero A, Vranckx LS, Clerc I, Taylor N, Thielecke L, Cornils K, Bueren JA, Rio P, Gijsbers R, Cosset FL, Verhoeyen E
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Intralymphatic Administration of Adipose Mesenchymal Stem Cells Reduces the Severity of Collagen-Induced Experimental Arthritis
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Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects.
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Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.
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Blood; (2012) 2012 Mar 29. 119(13):3042-9
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A novel lentiviral vector targets gene transfer into human hematopoietic stem cells in marrow from patients with bone marrow failure syndrome and in vivo in humanized mice
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Blood; (2012) 2012 Feb 2. 119(5):1139-50
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Unraveling the role of FANCD2 in chronic myeloid leukemia
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Leukemia; (2012) 2012 Jun. 26(6):1447-8
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Gene therapy for Fanconi anemia: one step closer to the clinic
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Hum Gene Ther; (2012) 2012 Feb. 23(2):141-4
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Generation of functional neutrophils from a mouse model of X-linked chronic granulomatous disorder using induced pluripotent stem cells
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PLoS One; (2011) 6(3):e17565
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Biochemical correction of X-CGD by a novel chimeric promoter regulating high levels of transgene expression in myeloid cells
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Mol Ther; (2011) 2011 Jan. 19(1):122-32
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From the Molecular Biology to the Gene Therapy of a DNA Repair Syndrome: Fanconi Anemia
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DNA Repair and Human Health; (2011) 349-372
Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anemia gene therapy working group meeting
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Mol Ther; (2011) 2011 Jul. 19(7):1193-8
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Exploring the link between MORF4L1 and risk of breast cancer
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Breast Cancer Res; 2011 Apr 5;13(2):R40. Doi: 10.1186/bcr2862 PubMed; PMID: 21466675
Fanconi anaemia: from a monogenic disease to sporadic cancer
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Clin Transl Oncol; 2011 Apr;13(4):215-21. doi: 10.1007/s12094-011-0645-6 PubMed; PMID: 21493181
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations
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Blood; (2011) 2011 Apr 7. 117(14):3759-69 Doi: 10.1182/blood-2010-08-299917
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Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact
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J Med Genet; (2011) 2011 Apr. 48(4):242-50 Doi: 10.1136/jmg.2010.084210
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Peritoneal repairing cells: a type of bone marrow derived progenitor cells involved in mesothelial regeneration.
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Correction of SCID-X1 using an enhancerless Vav promoter
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Immunoresponse against the transgene limits hematopoietic engraftment of mice transplanted in utero with virally transduced fetal liver.
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Gene Ther; (2011) 2011 May;18(5):469-78 Doi: 10.1038/gt.2010.160
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Development of an in vitro model for the simultaneous study of the efficacy and hematotoxicity of antileukemic compounds
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Toxicol Lett; (2010) 2010 Dec 15. 199(3):317-22 Doi: 10.1016/j.toxlet.2010.09.014
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Targeted Lentiviral Gene Therapy to Rescue the X-CGD Phenotype
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Hum Gene Ther; (2010) 21 (4) 515-515, APR 2010
Bcr/Abl interferes with the Fanconi anemia/BRCA pathway: implications in the chromosomal instability of chronic myeloid leukemia cells
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PLoS One; 2010 Dec 28; 5(12):e15525 Doi: 10.1371/journal.pone.0015525 PubMed; PMID: 21203397
Development of lentiviral vectors with optimized transcriptional activity for the gene therapy of patients with Fanconi anemia
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Hum Gene Ther; (2010) 2010 May. 21(5):623-30 Doi: 10.1089/hum.2009.141
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Prostaglandin E2 plays a key role in the immunosuppressive properties of adipose and bone marrow tissue-derived mesenchymal stromal cells
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Exp Cell Res; (2010) 2010 Nov 15. 316(19):3109-23 Doi: 10.1016/j.yexcr.2010.08.008
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Mesenchymal stem cells: biological properties and clinical applications
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A protocol describing the genetic correction of somatic human cells and subsequent generation of iPS cells
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Nat Protoc; (2010) 5 (4): 647-660; PMID: 20224565
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Altered hematopoiesis in mice lacking DNA polymerase mu is due to inefficient double-strand break repair
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PLoS Genet; 2009 Feb;5(2):e1000389. Doi: 10.1371/journal.pgen.1000389. PubMed; PMID: 19229323
Lentiviral-mediated Genetic Correction of Hematopoietic and Mesenchymal Progenitor Cells From Fanconi Anemia Patients
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In vitro sensitivity of granulo-monocytic progenitors as a new toxicological cell system and endpoint in the ACuteTox Project
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Toxicol Appl Pharmacol; (2009) 238(2):111-119 Doi: 10.1016/j.taap.2009.05.005
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Insertional Transformation of Hematopoietic Cells by Self-inactivating Lentiviral and Gammaretroviral Vectors
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Mol Ther; (2009) 17(11): 1919-1928, NOV 2009 Doi: 10.1038/mt.2009.179
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Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
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Nature; (2009) 460(7251):53-9
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Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.
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Mol Ther; (2009) 17(12):2000-9
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Bone Marrow-Derived Cells Promote Liver Regeneration in Mice With Erythropoietic Protoporphyria
Authors: Garcia-Bravo M, Moran-Jimenez MJ, Quintana-Bustamante O, Mendez M, Gutierrez-Vera I, Bueren J, Salido E, Segovia JC, Fontanellas A, de Salamanca RE
Transplantation; (2009) 88 (12): 1332-1340, Dec 27 2009
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Increased Intraocular Insulin-like Growth Factor-I Triggers Blood-Retinal Barrier Breakdown
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J Biol Chem; (2009) 284 (34): 22961-22969, Aug 21 2009 - PMID: 19473988
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Elevated levels of IL-1beta in Fanconi anaemia group A patients due to a constitutively active phosphoinositide 3-kinase-Akt pathway are capable of promoting tumour cell proliferation.
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Biochem J; (2009) 422(1):161-70
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Immunomagnetic enrichment of human and mouse hematopoietic stem cells for gene therapy applications.
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Methods Mol Biol; (2009) 506:1-11
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IGF-I mediates regeneration of endocrine pancreas by increasing beta cell replication through cell cycle protein modulation in mice
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Diabetología; (2008) 51(10): 1862-1872
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Evolution to pathogenicity of the parvovirus minute virus of mice in immunodeficient mice involves genetic heterogeneity at the capsid domain that determines tropism
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J Virol; (2008) 82(3): 1195-1203
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Constitutively active Akt induces ectodermal defects and impaired bone morphogenetic protein signaling
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Mol Biol Cell; (2008) 19(1):137-49
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Squalene in a sex-dependent manner modulates atherosclerotic lesion which correlates with hepatic fat content in apoE-knockout male mice
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Atherosclerosis; (2008) 197(1):72-83
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Fanconi Anemia Core Complex Moves to Chromatin
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Blood; (2008) 111(10): 4837-4838
In vivo proliferation advantage of genetically corrected hematopoietic stem cells in a mouse model of Fanconi anemia FA-D1
Authors: Rio P, Meza NW, Gonzalez-Murillo A, Navarro S, Alvarez L, Surralles J, Castella M, Guenechea G, Segovia JC, Hanenberg H, Bueren JA
Blood; (2008) 112(13): 4853-4861
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Unaltered repopulation properties of mouse hematopoietic stem cells transduced with lentiviral vectors
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Blood; (2008) 112(8): 3138-3147
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Relevance of the Fanconi anemia pathway in the response of human cells to trabectedin
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Mol Cancer Ther; (2008) 7(5): 1309-1318
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Characteristics of lentiviral vectors harboring the proximal promoter of the vav proto-oncogene: A weak and efficient promoter for gene therapy
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Mol Ther; (2007) 15(8): 1487-1494
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Introducción a los efectos deterministas. Síndrome de médula ósea. Terapia celular y genética.
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Avances en Radiobiología, Serie Ponencias Editorial CIEMAT; (2007) 117-152
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Predictive Tests of hematotoxicity in Pharmacological Cancer Therapy
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Stem Cells and Cancer; (2007) 117-141
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Functional Knock-Down of Human RAD51 for Testing the Fanconi Anemia BRCA Connection
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Hum Genet; (2007) (15): 211-225
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RAN d Medicina, ed Fundamentos Moleculares de la Medicina II; (2007) 165-175;
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Methods and Findings; (2007) (29): 23-26;
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Olive oil preparation determines the atherosclerotic protection in apolipoprotein E knockout mice.
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J Nutr Biochem; (2007) 18(6):418-24
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A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network
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J Med Genet; (2007) 44(4): 241-249
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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
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Am J Hum Genet; (2007) 80(5): 895-910
PubMed; PMID: 17436244
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In Vitro and in vivo expression of human erythrocyte pyruvate kinase in erythroid cells: A gene therapy approach
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Hum Gene Ther; (2007) 18(6): 502-514
PubMed; PMID: 17547515
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