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Visualitza Documents OpenAIRE (Open Access Infrastructure for Research in Europe) per autoria "Valcárcel, J. (Juan)"

Ara mostrant els elements 1-11 de 11

A novel protein domain in an ancestral splicing factor drove the evolution of neural microexons

Torres Méndez, Antonio; Bonnal, Sophie; Marquez, Yamile; Roth, Jonathan; Iglesias, Marta; Permanyer, Jon; Almudi, Isabel; O'Hanlon, Dave; Guitart, Tanit; Soller, Matthias; Gingras, Anne-Claude; Gebauer, Fátima; Rentzsch, Fabian; Blencowe, Benjamin J.; Valcárcel, J. (Juan); Irimia Martínez, Manuel (Nature Research, 2019)

The mechanisms by which entire programmes of gene regulation emerged during evolution are poorly understood. Neuronal microexons represent the most conserved class of alternative splicing in vertebrates, and are critical ...
Alternative splicing regulation of cell-cycle genes by SPF45/SR140/CHERP complex controls cell proliferation

Martín García, Elena, 1975-; Vivori, Claudia, 1989-; Rogalska, Malgorzata; Herrero-Vicente, Jorge; Valcárcel, J. (Juan) (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)

The regulation of pre-mRNA processing has important consequences for cell division and the control of cancer cell proliferation, but the underlying molecular mechanisms remain poorly understood. We report that three splicing ...
Co-option of the piRNA pathway for germline-specific alternative splicing of C. elegans TOR

Barberán-Soler, Sergio; Fontrodona, Laura; Ribó Rubio, Anna; Lamm, Ayelet T.; Iannone, Camilla, 1984-; Cerón, Julián; Lehner, Ben, 1978-; Valcárcel, J. (Juan) (Cell Press, 2014)

Many eukaryotic genes contain embedded antisense transcripts and repetitive sequences of unknown function. We report that male germline-specific expression of an antisense transcript contained in an intron of C. elegans ...
Dynamics of alternative splicing during somatic cell reprogramming reveals functions for RNA-binding proteins CPSF3, hnRNP UL1, and TIA1

Vivori, Claudia, 1989-; Papasaikas, Panagiotis; Stadhouders, Ralph; Di Stefano, Bruno, 1984-; Ribó Rubio, Anna; Berenguer, Clara; Generoso, Serena Francesca, 1988-; Mallol, Anna; Sardina, Jose Luis; Payer, Bernhard; Graf, T. (Thomas); Valcárcel, J. (Juan) (BioMed Central, 2021)

Background: Somatic cell reprogramming is the process that allows differentiated cells to revert to a pluripotent state. In contrast to the extensively studied rewiring of epigenetic and transcriptional programs required ...
Mutations primarily alter the inclusion of alternatively spliced exons

Baeza Centurión, Pablo, 1989-; Miñana Gómez, Belén; Valcárcel, J. (Juan); Lehner, Ben, 1978- (eLife, 2020)

Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered ...
Pancreatic microexons regulate islet function and glucose homeostasis

Juan-Mateu, Jonàs; Bajew, Simon, 1994-; Miret-Cuesta, Marta; Íñiguez, Luis P.; Lopez-Pascual, Amaya; Bonnal, Sophie; Atla, Goutham; Bonàs-Guarch, Silvia; Ferrer, Jorge; Valcárcel, J. (Juan); Irimia Martínez, Manuel (Nature Research, 2023)

Pancreatic islets control glucose homeostasis by the balanced secretion of insulin and other hormones, and their abnormal function causes diabetes or hypoglycaemia. Here we uncover a conserved programme of alternative ...
Promoter-like epigenetic signatures in exons displaying cell type-specific splicing

Curado, Joao; Iannone, Camilla, 1984-; Tilgner, Hagen, 1980-; Valcárcel, J. (Juan); Guigó Serra, Roderic (BioMed Central, 2015)

Background. Pre-mRNA splicing occurs mainly co-transcriptionally, and both nucleosome density and histone modifications have been proposed to play a role in splice site recognition and regulation. However, the extent and ...
Regulation of FAS exon definition and apoptosis by the ewing sarcoma protein

Paronetto, Maria Paola; Bernardis, Isabella; Volpe, Elisabetta; Bechara, Elias; Sebestyén, Endre; Eyras Jiménez, Eduardo; Valcárcel, J. (Juan) (Elsevier, 2014)

The Ewing sarcoma protein EWS is an RNA and DNA binding protein implicated in transcription, pre-mRNA splicing, and DNA damage response. Using CLIP-seq, we identified EWS RNA binding sites in exonic regions near 5′ splice ...
SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia

López-Oreja, Irene; Gohr, André; Playa-Albinyana, Heribert; Giró, Ariadna; Arenas, Fabián; Higashi, Morihiro; Tripathi, Rupal; López-Guerra, Mónica; Irimia Martínez, Manuel; Aymerich, Marta; Valcárcel, J. (Juan); Bonnal, Sophie; Colomer Pujol, Dolors (Life Science Alliance, 2023)

Splicing factor 3B subunit 1 (SF3B1) is involved in pre-mRNA branch site recognition and is the target of antitumor-splicing inhibitors. Mutations in SF3B1 are observed in 15% of patients with chronic lymphocytic leukemia ...
Smu1 and RED are required for activation of spliceosomal B complexes assembled on short introns

Keiper, Sandra; Papasaikas, Panagiotis; Will, Cindy L.; Valcárcel, J. (Juan); Girard, Cyrille; Lüchrmann, Reinhard (Nature Research, 2019)

Human pre-catalytic spliceosomes contain several proteins that associate transiently just prior to spliceosome activation and are absent in yeast, suggesting that this critical step is more complex in higher eukaryotes. ...
The complete local genotype-phenotype landscape for the alternative splicing of a human exon

Julien, Philippe; Miñana Gómez, Belén; Baeza Centurión, Pablo, 1989-; Valcárcel, J. (Juan); Lehner, Ben, 1978- (Nature Publishing Group, 2016)

The properties of genotype-phenotype landscapes are crucial for understanding evolution but are not characterized for most traits. Here, we present a >95% complete local landscape for a defined molecular function-the ...