Lessons from non-canonical splicing CR Sibley, L Blazquez, J Ule Nature Reviews Genetics 17 (7), 407-421, 2016 | 331 | 2016 |
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene A Saenz, F Leturcq, AM Cobo, JJ Poza, X Ferrer, D Otaegui, P Camano, ... Brain 128 (4), 732-742, 2005 | 183 | 2005 |
Recursive splicing in long vertebrate genes CR Sibley, W Emmett, L Blazquez, A Faro, N Haberman, M Briese, ... Nature 521 (7552), 371-375, 2015 | 172 | 2015 |
Exon junction complex shapes the transcriptome by repressing recursive splicing L Blazquez, W Emmett, R Faraway, JMB Pineda, S Bajew, A Gohr, ... Molecular cell 72 (3), 496-509. e9, 2018 | 86 | 2018 |
Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity V Boehm, T Britto-Borges, AL Steckelberg, KK Singh, JV Gerbracht, ... Molecular cell 72 (3), 482-495. e7, 2018 | 74 | 2018 |
CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population D Otaegui, A Saenz, P Camano, L Blazquez, M Goicoechea, ... Multiple Sclerosis Journal 12 (4), 511-514, 2006 | 54 | 2006 |
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis L Blázquez, M Azpitarte, A Sáenz, M Goicoechea, D Otaegui, X Ferrer, ... Neurogenetics 9, 173-182, 2008 | 50 | 2008 |
Apolipoprotein E ɛ4 allele in familial and sporadic Parkinson's disease L Blázquez, D Otaegui, A Saenz, C Paisan-Ruiz, JI Emparanza, ... Neuroscience letters 406 (3), 235-239, 2006 | 46 | 2006 |
Somatic mosaicism in a case of apparently sporadic Creutzfeldt‐Jakob disease carrying a de novo D178N mutation in the PRNP gene A Alzualde, F Moreno, P Martínez‐Lage, I Ferrer, A Gorostidi, D Otaegui, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 41 | 2010 |
Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population L Blázquez, D De Juan, J Ruiz-Martinez, JI Emparanza, A Saenz, ... Neurobiology of aging 28 (12), 1941-1943, 2007 | 41 | 2007 |
In Vitro Correction of a Pseudoexon‐Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNA s L Blázquez, A Aiastui, M Goicoechea, M Martins de Araujo, A Avril, ... Human mutation 34 (10), 1387-1395, 2013 | 31 | 2013 |
eIF4A3 regulates the TFEB-mediated transcriptional response via GSK3B to control autophagy D Sakellariou, M Tiberti, TH Kleiber, L Blazquez, AR López, ... Cell Death & Differentiation 28 (12), 3344-3356, 2021 | 24 | 2021 |
Increased in vivo inhibition of gene expression by combining RNA interference and U1 inhibition L Blazquez, SJ Gonzalez-Rojas, A Abad, N Razquin, X Abad, P Fortes Nucleic acids research 40 (1), e8-e8, 2012 | 24 | 2012 |
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations? A Sáenz, Y Ono, H Sorimachi, M Goicoechea, F Leturcq, L Blázquez, ... Muscle & nerve 44 (5), 710-714, 2011 | 22 | 2011 |
U1 interference (U1i) for antiviral approaches L Blazquez, P Fortes Gene therapy for HIV and chronic infections, 51-69, 2015 | 13 | 2015 |
U1 snRNP control of 3-end processing and the therapeutic application of U1 inhibition combined with RNA interference L Blázquez, P Fortes Current Molecular Medicine 13 (7), 1203-1216, 2013 | 13 | 2013 |
ORC1 binds to cis-transcribed RNAs for efficient activation of replication origins AM Mas, E Goñi, I Ruiz de Los Mozos, A Arcas, L Statello, J González, ... Nature Communications 14 (1), 4447, 2023 | 11 | 2023 |
A CRISPR-dCas13 RNA-editing tool to study alternative splicing Y Núñez-Álvarez, T Espie-Caullet, G Buhagiar, A Rubio-Zulaika, ... Nucleic Acids Research 52 (19), 11926-11939, 2024 | 5 | 2024 |
The paralogues MAGOH and MAGOHB are oncogenic factors in high-grade gliomas and safeguard the splicing of cell division and cell cycle genes RAS Barreiro, GDA Guardia, FM Meliso, X Lei, WQ Li, A Savio, ... RNA biology 20 (1), 311-322, 2023 | 5 | 2023 |
Harnessing RNAi for the treatment of viral infections LC Blazquez, P Fortes Applied RNAi. Caister Academic Press, Norfolk, UK, 151-180, 2014 | 3 | 2014 |