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Investigación Epidemiológica en Enfermedades Raras
Publicaciones destacadas
Plasma membrane calcium ATPase isoform 4 inhibits vascular endothelial growth factor-mediated angiogenesis through interaction with calcineurin. 2014. Arterioscler. Thromb. Vasc. Biol. Volumen: 34: 2310-2320.
Baggott RR, Alfranca A, López-Maderuelo D, Mohamed TM, Escolano A, Oller J, Ornes BC, Kurusamy S, Rowther FB, Brown JE, Oceandy D, Cartwright EJ, Wang W, Gómez-del Arco P, Martínez-Martínez S., Neyses L, Redondo JM, Armesilla AL.
PUBMED DOIAlternative promoter usage at the Notch1 locus supports ligand-independent signaling in T cell development and leukemogenesis. 2010. Immunity. 33(5): 685-698.
Pablo Gómez-del Arco, Mariko Kashiwagi, Audrey F. Jackson, Taku Naito, Jiangwen Zhang, Feifei Liu, Barbara Kee, Marc Vooijs, Freddy Radtke, Juan Miguel Redondo and Katia Georgopoulos.
PUBMED DOIMAZ induces MYB expression during the exit from quiescence via the E2F site in the MYB promoter. 2017. Nucleic Acids Research. 45 (17): 9960-9975.
Alvaro-Blanco J., Urso K., Chiodo Y., Martín-Cortázar C., Kourani O., Gómez-del Arco P., Rodríguez-Martínez M., Calonge E., Alcamí J., Redondo JM., Iglesias T., and MR. Campanero.
PUBMED DOILiver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease
Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jimenez C, Monzón S, Cuesta I, Garfia C, Martínez MT, Huch M, Pérez de Castro I, Posada M, Janciauskiene S, Martínez-Delgado B. Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease. Hepatol Int. 2020 Jan;14(1):127-137.
PUBMED DOIThe Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H. Nat Genet. 2025 Sep 9. doi: 10.1038/s41588-025-02290-3. Online ahead of print. PMID: 40926087 Review.
PUBMED DOIHeterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.
Cordovado A, Hérenger Y, Cormier C, López-Martín E, Stamberger H, Faivre L, Denommé-Pichon AS, Vitobello A, Abdallah HH, Barcia G, Courtin T, Martínez-Delgado B, Bermejo-Sánchez E, Barrero MJ, Gasser B, Bezieau S, Küry S, Weckhuysen S, Laumonnier F, Toutain A, Vuillaume ML. Hum Mutat. 2025 Mar 5;2025:7085599. doi: 10.1155/humu/7085599. eCollection 2025. PMID: 40226306 Free PMC article.
PUBMED DOIAdult neurogenesis through glial transdifferentiation in a CNS injury paradigm
Casas-Tinto S, Garcia-Guillen N, Losada-Perez M. Adult neurogenesis through glial transdifferentiation in a CNS injury paradigm. Elife. 2025 Mar 7;13:RP96890. doi: 10.7554/eLife.96890. PMID: 40052673; PMCID: PMC11888597.
PUBMED DOIVP3.15, a dual GSK-3β/PDE7 inhibitor, reduces glioblastoma tumor growth though changes in the tumor microenvironment in a PTEN wild-type context
Castello-Pons M, Ramirez-Gonzalez MA, Iglesias-Hernández P, Lendo NL, Rodriguez-Martín C, Quiralte L, Sepúlveda-Sánchez JM, de Dios O, Gil C, Martínez A, Sánchez-Gómez P, Casas-Tinto S. VP3.15, a dual GSK-3β/PDE7 inhibitor, reduces glioblastoma tumor growth though changes in the tumor microenvironment in a PTEN wild-type context. Neurotherapeutics. 2025 Jul;22(4):e00576. doi: 10.1016/j.neurot.2025.e00576. Epub 2025 Mar 28. PMID: 40157890; PMCID: PMC12418426.
PUBMED DOIThree Decades of the Spanish Society for Developmental Biology (SEBD): Insights and Emerging Perspectives from the 18th Spanish Society for Developmental Biology Meeting (SEBD 2024)
Herrera E, Acosta S, Almuedo M, Borrell V, Cañestro C, Casas-Tintó S, Escudero LM, Gorfinkiel N, Hoijman E, Pastor-Pareja JC, Pernaute B, Rayón T, Saade M, Solana J, Trivedi V, Martí E, Pujades C, Araújo SJ. Three Decades of the Spanish Society for Developmental Biology (SEBD): Insights and Emerging Perspectives from the 18th Spanish Society for Developmental Biology Meeting (SEBD 2024). Int J Dev Biol. 2025;69(1):1-9. doi: 10.1387/ijdb.250034sa. PMID: 40298871.
PUBMED DOIImmunodetection of Truncated Forms of the α6 Subunit of the nAChR in the Brain of Spinosad Resistant Ceratitis capitata Phenotypes
Guillem-Amat A, López-Errasquín E, García-Ricote I, Barbero JL, Sánchez L, Casas-Tintó S, Ortego F. Immunodetection of Truncated Forms of the α6 Subunit of the nAChR in the Brain of Spinosad Resistant Ceratitis capitata Phenotypes. Insects. 2023 Nov 4;14(11):857. doi: 10.3390/insects14110857. PMID: 37999056; PMCID: PMC10672392.
PUBMED DOISynaptic components are required for glioblastoma progression in Drosophila
Losada-Pérez M, Hernández García-Moreno M, García-Ricote I, Casas-Tintó S. Synaptic components are required for glioblastoma progression in Drosophila. PLoS Genet. 2022 Jul 25;18(7):e1010329. doi: 10.1371/journal.pgen.1010329. PMID: 35877760; PMCID: PMC9352205.
PUBMED DOIAlignment between glioblastoma internal clock and environmental cues ameliorates survival in Drosophila
Jarabo P, Barredo CG, de Pablo C, Casas-Tinto S, Martin FA. Alignment between glioblastoma internal clock and environmental cues ameliorates survival in Drosophila. Commun Biol. 2022 Jun 30;5(1):644. doi: 10.1038/s42003-022-03600-9. PMID: 35773327; PMCID: PMC9247055.
PUBMED DOIMechanical control of nuclear import by Importin-7 is regulated by its dominant cargo YAP. (2022) Nature Communications.
García-García M, Sánchez-Perales S, Casas-Tintó S, Görlich D, Echarri A and del Pozo MA. Mechanical control of nuclear import by Importin-7 is regulated by its dominant cargo YAP. (2022) Nature Communications. doi: 10.1038/s41467-022-28693-y. PMID: 35246520
PUBMED DOIInformación adicional
Tesis doctorales defendidas
- Juan Benito Lozano. (2024). Determinantes e impacto del retraso diagnóstico de las enfermedades raras en España. Directora: Verónica Alonso Ferreira. UNED-IMIENS-ISCIII. Enmarcada dentro del proyecto "DetERminantes del retraso diagnóstico: repercusión social y familiar".
- Germán Sanchez Díaz. (2019). An epidemiological and GIS-based analysis of mortality in selected Rare Diseases. Directores: Francisco Javier Escobar Martínez y Verónica Alonso Ferreira. Universidad de Alcalá. Enmarcada dentro del proyecto "Mortalidad atribuible a Enfermedades raras en España 1981-2010: Sistema de Información Interactivo de la variabilidad temporal y geográfica".
- Greta Arias Merino. (2017). Mortalidad debida a enfermedades raras neurológicas en Europa: enfermedad de Huntington, ataxias hereditarias y enfermedades de la motoneurona. Directores: Verónica Alonso Ferreira y Manuel Posada de la Paz. Universidad Complutense de Madrid.
Tesis doctorales en curso
- Elisa Gallego Ruiz de Elvira. Epidemiología de la Fiebre Mediterránea Familiar. Dirección: Verónica Alonso Ferreira. UNED-IMIENS-ISCIII.
- Angélica Ortega Torres. Análisis de la mortalidad de enfermedades raras multisistémicas en el entorno europeo. Directores: Greta Arias Merino y Verónica Alonso Ferreira. UNED-IMIENS-ISCIII.