Toxic oil syndrome: healthrelated quality-of-life assessment using the SF-36 Health Survey. International Journal of Epidemiology, 51(2), 491–500.

The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires. Quality Of Life Research. 2022 Jun 2; 31(10), 2995-3008.

Garrido-Estepa, M., Arias-Merino, G., Alonso-Ferreira, V., Villaverde-Hueso, A., & De la Paz, M. P.

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

1. Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jiménez 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. 2019;14: 127-137.

The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas

2. Segura-Collar B, Gargini R, Tovar-Ambel E, Hérnandez-SanMiguel E, Epifano C, Pérez de Castro I, Hernández-Lain A, Casas-Tintó S, Sánchez-Gómez P. The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas. Cancers (Basel). 2020;12(1):208.

Consequences of Lmna Exon 4 Mutations in Myoblast Function

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Mitochondrial RNA methyltransferase TRMT61B is a new, potential aneuploidy biomarker and therapeutic target for unstable cancers

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Open label phase II clinical trial of ketoconazole as CYP17 inhibitor in metastatic or advanced non-resectable granulosa cell ovarian tumors.The GREKO (GRanulosa Et KetOconazole) trial. GETHI 2011-03

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CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds

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CRISPR/Cas9-mediated elimination of the LMNA c.745C>G pathogenic mutation enhances survival and cardiac function in LMNA-associated congenital muscular dystrophy

7. Gómez-Domínguez D, Epifano C, Hernández I, Vilaplana-Martí B, Cesar S, de Molina-Iracheta A, Sena-Esteves M, Sarquella-Brugada G, Pérez de Castro I. CRISPR/Cas9-mediated elimination of the LMNA c.745C>G pathogenic mutation enhances survival and cardiac function in LMNA-associated congenital muscular dystrophy. bioRxiv 2025.02.13.638060; (in press in Molecular Therapy-Methods & Clinical Development)

Adult neurogenesis through glial transdifferentiation in a CNS injury paradigm

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Drosophila melanogaster as a Model System for Human Glioblastoma

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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.

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

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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.

Immunodetection of Truncated Forms of the α6 Subunit of the nAChR in the Brain of Spinosad Resistant Ceratitis capitata Phenotypes

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Synaptic components are required for glioblastoma progression in Drosophila

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Alignment between glioblastoma internal clock and environmental cues ameliorates survival in Drosophila

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The haplolethality paradox of the wupA gene in Drosophila (2021) PLoS Gen 2021.

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A novel injury paradigm in the central nervous system of adult Drosophila: molecular, cellular and functional aspects. (2021) Dis Model Mech.

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Neural functions of small heat shock proteins. (2022) Neural Regen Res. 2022.

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Mechanical control of nuclear import by Importin-7 is regulated by its dominant cargo YAP. (2022) Nature Communications.

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Circadian Gene cry Controls Tumorigenesis through Modulation of Myc Accumulation in Glioblastoma Cells. (2022) Int J Mol Sci.

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Cell-to-cell communication mediates glioblastoma progression in Drosophila. (2020) Biol Open.

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Meeting report of the 17th Spanish Society for Developmental Biology Meeting (SEBD2020). (2021) Int J Dev Biol.

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Modeling invasion patterns in the glioblastoma battlefield. (2021) PLoS Comput Biol.

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Insulin signaling mediates neurodegeneration in glioma. (2021) Life Sci Alliance.

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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.

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.

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.

Human LFA-1 governs T cell immune surveillance of the skin

Yatim, A., Youssefian, L., Idani, A., Mourelatos, H., Alipour Olyaei, N., Habibi, L., Peel, J.N., Gaballa, M., Kim, C., Lee, D., et al. (2026). Human LFA-1 governs T cell immune surveillance of the skin. Sci. Immunol. 11, eadz8360. https://www.science.org/doi/10.1126/sciimmunol.adz8360

Cytokine-Driven Janus Kinase Signal Transducer and Activator of Transcription (JAK/STAT) Pathway Hyperactivity Predicts Disease Severity in Pediatric Focal Segmental Glomerulosclerosis

Shen, C.L., Richardson, A., Martin-Fernandez, M., Malle, L., Buta, S., Patel, A., Rosberger, H., Lim, J., Horesh, M., Saland, J., et al. (2025). Cytokine-Driven Janus Kinase Signal Transducer and Activator of Transcription (JAK/STAT) Pathway Hyperactivity Predicts Disease Severity in Pediatric Focal Segmental Glomerulosclerosis. Kidney360. https://journals.lww.com/10.34067/KID.0000001010

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis

Sazeides, C., Cuollo, L., Sidhu, I., Randolph, H.E., Martin-Fernandez, M., Buta, S., Stewart, O.J., Geltman, R., Adalsteinsson, J.A., Phelps, R.G., et al. (2026). Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis. Journal of Human Immunity 2, e20250011. https://rupress.org/jhi/article/2/3/e20250011/281524/Human-ISG15-deficiency-unveils-impaired-healing-of

An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo

Akalu, Y.T., Patel, R.S., Taft, J., Canas-Arranz, R., Geltman, R., Richardson, A., Buta, S., Martin-Fernandez, M., Sazeides, C., Pearl, R.L., et al. (2025). An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo. Sci. Transl. Med. 17, eadx5758. https://www.science.org/doi/10.1126/scitranslmed.adx5758

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

Neehus, A.-L., Carey, B., Landekic, M., Panikulam, P., Deutsch, G., Ogishi, M., Arango-Franco, C.A., Philippot, Q., Modaresi, M., Mohammadzadeh, I., et al. (2024). Human inherited CCR2 deficiency underlies progressive polycystic lung disease. Cell 187, 390-408.e23.

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria

Bohlen, J., Zhou, Q., Philippot, Q., Ogishi, M., Rinchai, D., Nieminen, T., Seyedpour, S., Parvaneh, N., Rezaei, N., Yazdanpanah, N., et al. (2023). Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria. Cell 186, 5114-5134.e27.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Martin-Fernandez, M., Bravo García-Morato, M., Gruber, C., Murias Loza, S., Malik, M.N.H., Alsohime, F., Alakeel, A., Valdez, R., Buta, S., Buda, G., et al. (2020). Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions. Cell Reports 31, 107633.

Comparative study of the effects of osteoprotegerin and testosterone on bone quality in male orchidectomised rats

Martín-Fernández, M., Garzón-Márquez, F.-M., Díaz-Curiel, M., Prieto-Potin, I., Alvarez-Galovich, L., Guede, D., Caeiro-Rey, J.R., and De La Piedra, C. (2020). Comparative study of the effects of osteoprotegerin and testosterone on bone quality in male orchidectomised rats. The Aging Male 23, 189–201.

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

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Rapid identification of neutralizing antibodies against SARS-CoV-2 variants by mRNA display

Tanaka, S., Olson, C.A., Barnes, C.O., Higashide, W., Gonzalez, M., Taft, J., Richardson, A., Martin-Fernandez, M., Bogunovic, D., Gnanapragasam, P.N.P., et al. (2022). Rapid identification of neutralizing antibodies against SARS-CoV-2 variants by mRNA display. Cell Reports 38, 110348.