Publications

Check our latest publication describing how mutations in Snurportin-1 are the cause of a novel type of muscular dystrophy!!

• Iruzubieta, P.*,‡, Damborenea, A.*, Ioghen, M.*, Bajew, S., Fernandez-Torrón, R., Töpf, A., Herrero-Reiriz, Á., Epure, D., Vill, K., Hernández-Laín, A., Manterola, M., Azkargorta, M., Pikatza-Menoio, O., Pérez-Fernandez, L., García-Puga, M., Gaina, G., Bastian, A., Streata, I., Walter, M. C., Müller-Felber, W., … Blázquez, L‡. (2024). Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features. Brain : a journal of neurology, awae046. Advance online publication. https://doi.org/10.1093/brain/awae046

Selected Research Articles

• Zufiría, M., Pikatza-Menoio, O., Garciandia-Arcelus, M., Bengoetxea, X., […], Blázquez L, López de Munain A, Gereñu G, Gil-Bea F, Alonso-Martín, S. (2024). Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis. Acta neuropathologica, 148(1), 43. https://doi.org/10.1007/s00401-024-02794-y

• Núñez-Álvarez, Y., Espie-Caullet, T., Buhagiar, G., Rubio-Zulaika, A., Alonso-Marañón, J., Luna-Pérez, E., Blázquez, L., & Luco, R. F. (2024). A CRISPR-dCas13 RNA-editing tool to study alternative splicing. Nucleic acids research, gkae682. Advance online publication. https://doi.org/10.1093/nar/gkae682

• Haberman, N., Cheung, R., Pizza, G., Cvetesic, N., Nagy, D., Maude, H., Blazquez, L., Lenhard, B., Cebola, I., Rutter, G. A., & Martinez-Sanchez, A. (2024). Liver kinase B1 (LKB1) regulates the epigenetic landscape of mouse pancreatic beta cells. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 38(16), e23885. https://doi.org/10.1096/fj.202401078R

• Más A, Goñi E, Ruiz de los Mozos I, Arcas A, Statello L, Gonzales J, Blázquez L, […], Huarte M. (2023). ORC1 binds to cis-transcribed RNAs for efficient activation of replication origins. Nature communications, 14(1), 4447. https://doi.org/10.1038/s41467-023-40105-3. 

• Barreiro RAS, Guardia GDA, […], Blazquez L, Ule J, Penalva LOF, Galante PAF. The paralogues MAGOH and MAGOHB are oncogenic factors in high-grade gliomas and safeguard the splicing of cell division and cell cycle genes. RNA Biol. (2023). https://doi.org/10.1101/2022.12.20.521107.

• Rovira, E., Moreno, B., […], Ule, J., Pastor, F., Blazquez, L.‡, & Fortes, P.‡. U1A is a positive regulator of the expression of heterologous and cellular genes involved in cell proliferation and migration. Molecular therapy. Nucleic acids, (2022). https://doi.org/10.1016/j.omtn.2022.05.023.

• Sakellariou D, Tiberti M, Kleiber TH, Blazquez L et al. eIF4A3 regulates the TFEB-mediated transcriptional response via GSK3B to control autophagy. Cell Death Differ. 2021. https://doi.org/10.1038/s41418-021-00822-y.

• Blazquez L‡, Emmett W, Faraway R, […] Ule J‡. Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing. Mol Cell. 2018. https://doi.org/10.1016/j.molcel.2018.09.033.

• Boehm V, Britto-Borges T, Steckelberg AL, Singh KK, Gerbracht JV, Gueney E, Blazquez L, […] Gehring NH. Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity. Mol Cell. 2018. https://doi.org/10.1016/j.molcel.2018.08.030.

• Sibley C*, Emmett W*, Blazquez L, […], Ule J. Recursive splicing in long vertebrate genes. Nature. 2015.  https://doi.org/10.1038/nature14466.

• Blazquez L‡, Aiastui A, […], López de Munain A‡. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs. Human Mutation. 2013. https://doi.org/10.1002/humu.22379.

• Blazquez L*, Gonzalez-Rojas SJ*, Abad A, […], Fortes P. Increased in vivo inhibition of gene expression by combining RNA interference and U1 inhibition. Nucleic Acids Research. 2012.  https://doi.org/10.1093/nar/gkr956.

• Blazquez L‡, Azpitarte M, […] López de Munain A‡. Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. Neurogenetics. 2008. https://doi.org/10.1007/s10048-008-0129-1.