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Articles, 5 records found
Articles 5 records found  
1.
19 p, 4.3 MB Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 / Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Vázquez-Manrique, Rafael P. (Instituto de Salud Carlos III) ; Gómez-Escribano, Ana Pilar (Instituto de Salud Carlos III) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Myotonic Dystrophy type 1 (DM1) is a muscular dystrophy with a multi-systemic nature. It was one of the first diseases in which repeat associated non-ATG (RAN) translation was described in 2011, but has not been further explored since. [...]
2021 - 10.3390/jcm10235520
Journal of clinical medicine, Vol. 10 (november 2021)  
Detailed record - Creative Commons
2.
21 p, 3.0 MB An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation / Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Odria, Renato (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Capó, Júlia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Natera de Benito, Daniel. (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Saez, Verónica (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Nascimento, Andrés (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Ortez González, Carlos Ignacio (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Rubio, Miguel Ángel (Hospital del Mar (Barcelona, Catalunya)) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Lucente, Giuseppe (Institut Germans Trias i Pujol) ; Rodriguez-Palmero, Agustín (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol) ; Nogales-Gadea, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Suelves, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methy-lation profiles of four annotated CpG islands (CpGis) in the DMPK locus and neighbouring genes, in distinct DM1 tissues and derived cells, representing six DM1 subtypes, by bisulphite sequencing. [...]
2022 - 10.3390/biomedicines10061372
Biomedicines, Vol. 10 Núm. 6 (june 2022) , p. 1372  
Detailed record - Creative Commons
3.
1.9 MB MacroH2A1.1 regulates mitochondrial respiration by limiting nuclear NAD + consumption / Posavec Marjanović, Melanija (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Hurtado-Bagès, Sarah (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Lassi, Maximilian (German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany) ; Valero, Vanesa (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Malinverni, Roberto (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Delage, Hélène (Centre National de la Recherche Scientifique (França)) ; Navarro, Miriam (Universitat Rovira i Virgili) ; Corujo, David (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Guberovic, Iva (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Douet, Julien (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Gama-Pérez, Pau (Universitat de Barcelona. Departament de Ciències Fisiològiques II) ; Garcia-Roves, Pablo M. (Universitat de Barcelona. Departament de Ciències Fisiològiques II) ; Ahel, Ivan (Sir William Dunn School of Pathology, University of Oxford, Oxford, UK) ; Ladurner, Andreas G. (Biomedical Center Munich (BMC) - Physiological Chemistry, Center for Integrated Protein Science Munich, Munich Cluster for Systems Neurology, Faculty of Medicine, LMU Munich, Planegg-Martinsried, Germany) ; Yanes, Oscar (Universitat Rovira i Virgili) ; Bouvet, Philippe (Université de Lyon, Ecole Normale Supérieure de Lyon) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Teperino, Raffaele (Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany) ; Pospisilik, J. Andrew (Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany) ; Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Histone variants are structural components of eukaryotic chromatin that can replace replication-coupled histones in the nucleosome. The histone variant macroH2A. 1. 1 contains a macrodomain able to bind NAD + derived metabolites. [...]
2017 - 10.1038/nsmb.3481
Nature structural & molecular biology, Vol. 24 (october 2017) , p. 902-910  
Detailed record -
4.
15 p, 2.3 MB Muscle cell identity requires Pax7-mediated lineage-specific DNA demethylation / Carrió Gaspar, Elvira (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Magli, Alessandro (Lillehei Heart Institute (Minneapolis, Estats Units d'Amèrica)) ; Muñoz, Mar (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Peinado Morales, Miguel Á. (Miguel Ángel) (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Perlingeiro, Rita (Lillehei Heart Institute (Minneapolis, Estats Units d'Amèrica)) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
BACKGROUND: Skeletal muscle stem cells enable the formation, growth, maintenance, and regeneration of skeletal muscle throughout life. The regeneration process is compromised in several pathological conditions, and muscle progenitors derived from pluripotent stem cells have been suggested as a potential therapeutic source for tissue replacement. [...]
2016 - 10.1186/s12915-016-0250-9
BMC biology, Vol. 14, Núm. 30 (2016)  
Detailed record - Creative Commons
5.
12 p, 1.5 MB DNA methylation dynamics in muscle development and disease / Carrió Gaspar, Elvira (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity. Traditionally, DNA methylation has been considered as a permanent repressive epigenetic mark. [...]
2015 - 10.3389/fnagi.2015.00019
Frontiers in aging neuroscience, Vol. 7 Núm. 19 (2015)  
Detailed record - Creative Commons

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