Investigación sobre Anomalías Congénitas

Liver 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 DOI

The 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.

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Heterozygous 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 DOI

Adult 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.

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Drosophila melanogaster as a Model System for Human Glioblastoma

de Los Reyes Corrales T, Casas-Tintó S. Drosophila melanogaster as a Model System for Human Glioblastoma. Adv Exp Med Biol. 2025;1482:209-227. doi: 10.1007/978-3-031-97035-1_11. PMID: 40745143.

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VP3.15, 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.

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Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases.

Casas-Tintó S. Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases. Insects. 2024 Nov 6;15(11):870. doi: 10.3390/insects15110870. PMID: 39590469; PMCID: PMC11594678.

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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)

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.

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Investigación