Browsing Center for Genomic Regulation (CRG) by Title

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  • Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report
    Oldoni, Emanuela; Saunders, Gary; Bietrix, Florence; Garcia Bermejo, Maria Laura; Niehues, Anna; Hoen, Peter A. C.; Nordlund, Jessica; Hajduch, Marian; Scherer, Andreas; Kivinen, Katja; Pitkänen, Esa; Mäkela, Tomi Pekka; Gut, Ivo Glynne; Scollen, Serena; Kozera, Łukasz; Esteller, Manel; Shi, Leming; Ussi, Anton; Andreu, Antonio L.; Gool, Alian J. van (Frontiers, 2022)
    Personalised medicine (PM) presents a great opportunity to improve the future of individualised healthcare. Recent advances in -omics technologies have led to unprecedented efforts characterising the biology and molecular ...
  • TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre-chylomicrons/VLDLs from the endoplasmic reticulum
    Santos, António J. M.; Nogueira, Cristina; Ortega Bellido, María; Malhotra, Vivek (Rockefeller University Press, 2016)
    Procollagens, pre-chylomicrons, and pre–very low-density lipoproteins (pre-VLDLs) are too big to fit into conventional COPII-coated vesicles, so how are these bulky cargoes exported from the endoplasmic reticulum (ER)? We ...
  • TANGO1 assembles into rings around COPII coats at ER exit sites
    Raote, Ishier; Ortega Bellido, María; Pirozzi, Marianella; Zhang, Chong; Melville, David; Parashuraman, Seetharaman; Zimmermann, Timo; Malhotra, Vivek (Rockefeller University Press, 2017)
    TANGO1 (transport and Golgi organization 1) interacts with CTAGE5 and COPII components Sec23/Sec24 and recruits ERGIC-53 (endoplasmic reticulum [ER]–Golgi intermediate compartment 53)–containing membranes to generate a ...
  • TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes
    Raote, Ishier; Ortega Bellido, María; Santos, António J. M.; Foresti, Ombretta; Zhang, Chong; García Parajó, María F.; Campelo, Felix; Malhotra, Vivek (eLife, 2018)
    Collagen export from the endoplasmic reticulum (ER) requires TANGO1, COPII coats, and retrograde fusion of ERGIC membranes. How do these components come together to produce a transport carrier commensurate with the bulky ...
  • TANGO1 inhibitors reduce collagen secretion and limit tissue scarring
    Raote, Ishier; Häkkinen, Hanna-Maria; Vibe, Carine; Broadbent, Katrina; Carolis, Carlo; Ruprecht, Verena; Malhotra, Vivek (Nature Research, 2024)
    Uncontrolled secretion of ECM proteins, such as collagen, can lead to excessive scarring and fibrosis and compromise tissue function. Despite the widespread occurrence of fibrotic diseases and scarring, effective therapies ...
  • TANGO1 marshals the early secretory pathway for cargo export
    Raote, Ishier; Saxena, Sonashree; Campelo, Felix; Malhotra, Vivek (Elsevier, 2021)
    TANGO1 protein facilitates the endoplasmic reticulum (ER) export of large cargoes that cannot be accommodated in 60 nm transport vesicles. It assembles into a ring in the plane of the ER membrane to create a distinct domain. ...
  • TANGO1 membrane helices create a lipid diffusion barrier at curved membranes
    Raote, Ishier; Ernst, Andreas M.; Campelo, Felix; Rothman, James E.; Pincet, Frederic; Malhotra, Vivek (eLife, 2020)
    We have previously shown TANGO1 organises membranes at the interface of the endoplasmic reticulum (ER) and ERGIC/Golgi (Raote et al., 2018). TANGO1 corrals retrograde membranes at ER exit sites to create an export conduit. ...
  • Targeted NUDT5 inhibitors block hormone signaling in breast cancer cells
    Page, Brent D.G.; Wright, Roni H.G.; Font Mateu, Jofre, 1977-; Beato, Miguel; Helleday, Thomas (Nature Research, 2018)
    With a diverse network of substrates, NUDIX hydrolases have emerged as a key family of nucleotide-metabolizing enzymes. NUDT5 (also called NUDIX5) has been implicated in ADP-ribose and 8-oxo-guanine metabolism and was ...
  • Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes
    Gil-Varea, Elia; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (Wiley, 2020)
    Although genome-wide association studies have identified a number of common variants associated with multiple sclerosis (MS) susceptibility, little is known about the relevance of rare variants. Here, we aimed to explore ...
  • Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
    Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns (Portland Press, 2019)
    Despite recent scientific advances, most rare genetic diseases - including most neuro-muscular diseases - do not currently have curative gene-based therapies available. However, in some cases, such as vitamin, cofactor or ...
  • Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a 'Treatabolome'
    Manta, Alexander; Spendiff, Sally; Lochmüller, Hanns; Thompson, Rachel (IOS Press, 2021)
    Background: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are ...
  • Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.
    Rué, Laura; Bañez Coronel, Mónica; Creus-Muncunill, Jordi; Giralt, Albert; Alcalá-Vida, Rafael; Mentxaka, Gartze; Kagerbauer, Birgit; Zomeño-Abellán, M. Teresa; Aranda, Zeus; Venturi, Veronica; Pérez-Navarro, Esther; Estivill, Xavier, 1955-; Martí, Eulàlia (American Society for Clinical Investigation, 2016)
    Huntington's disease (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1. This expansion encodes a mutant protein whose abnormal function is traditionally associated with HD ...
  • Targeting lymphoid-derived IL-17 signaling to delay skin aging
    Solá, Paloma; Mereu, Elisabetta; Bonjoch, Júlia; Casado-Peláez, Marta; Prats, Neus; Aguilera, Mònica; Reina García, Óscar, 1976-; Blanco, Enrique; Esteller, Manel; Di Croce, Luciano; Heyn, Holger; Solanas, Guiomar; Aznar Benitah, Salvador (Nature Research, 2023)
    Skin aging is characterized by structural and functional changes that contribute to age-associated frailty. This probably depends on synergy between alterations in the local niche and stem cell-intrinsic changes, underscored ...
  • Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models
    Kataura, Tetsushi; Sedlackova, Lucia; Sun, Congxin; Kocak, Gamze; Wilson, Niall; Banks, Peter; Hayat, Faisal; Trushin, Sergey; Trushina, Eugenia; Maddocks, Oliver D. K.; Oblong, John E.; Miwa, Satomi; Imoto, Masaya; Saiki, Shinki; Erskine, Daniel; Migaud, Marie E.; Sarkar, Sovan; Korolchuk, Viktor I. (Nature Research, 2024)
    Impairment of autophagy leads to an accumulation of misfolded proteins and damaged organelles and has been implicated in plethora of human diseases. Loss of autophagy in actively respiring cells has also been shown to ...
  • Targeting the endocannabinoid system in the treatment of fragile X syndrome
    Busquets Garcia, Arnau, 1985-; Gomis González, Maria, 1988-; Guegan, Thomas, 1983-; Agustín Pavón, Carmen; Pastor, Antonio; Mato, Susana; Pérez Samartín, A.; Matute, Carlos; Torre Fornell, Rafael de la; Dierssen, Mara; Maldonado, Rafael, 1961-; Ozaita Mintegui, Andrés, 1969- (Nature Publishing Group, 2013)
    Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism, is caused by the silencing of the FMR1 gene, leading to the loss of fragile X mental retardation protein (FMRP), a ...
  • tarsal-less is expressed as a gap gene but has no gap gene phenotype in the moth midge Clogmia albipunctata
    Jiménez Guri, Eva; Wotton, Karl R.; Jaeger, Johannes, 1973- (Royal Society, 2018)
    Gap genes are involved in segment determination during early development of the vinegar fly Drosophila melanogaster and other dipteran insects (flies, midges and mosquitoes). They are expressed in overlapping domains along ...
  • Taxane-induced attenuation of the CXCR2/BCL-2 axis aensitizes prostate cancer to platinum-based treatment
    Ruiz de Porras, Vicenç; Indacochea Cusirramos, Alberto; Aytes, Alvaro (Elsevier, 2020)
    Background: Taxanes are the most active chemotherapy agents in metastatic castration-resistant prostate cancer (mCRPC) patients; yet, resistance occurs almost invariably, representing an important clinical challenge. ...
  • TCS: a web server for multiple sequence alignment evaluation and phylogenetic reconstruction
    Chang, Jia-Ming, 1978-; Di Tommaso, Paolo; Lefort, Vincent; Gascuel, Olivier; Notredame, Cedric (Oxford University Press, 2015)
    This article introduces the Transitive Consistency Score (TCS) web server; a service making it possible to estimate the local reliability of protein multiple sequence alignments (MSAs) using the TCS index. The evaluation ...
  • Temporal perturbation of the Wnt signaling pathway in the control of cell reprogramming is modulated by TCF1
    Aulicino, Francesco, 1987-; Theka, Ilda, 1984-; Ombrato, Luigi; Lluis Vinas, Frederic; Cosma, Maria Pia (Cell Press, 2014)
    Cyclic activation of the Wnt/β-catenin signaling pathway controls cell fusion-mediated somatic cell reprogramming. TCFs belong to a family of transcription factors that, in complex with β-catenin, bind and transcriptionally ...
  • Temporally resolved proteomics identifies nidogen-2 as a cotarget in pancreatic cancer that modulates fibrosis and therapy response
    Pereira, Brooke A.; Lucas, Morghan C.; Timpson, Paul (American Association for the Advancement of Science (AAAS), 2024)
    Pancreatic ductal adenocarcinoma (PDAC) is characterized by increasing fibrosis, which can enhance tumor progression and spread. Here, we undertook an unbiased temporal assessment of the matrisome of the highly metastatic ...

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