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1.
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19 p, 4.3 MB |
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
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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)
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2.
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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
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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
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3.
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15 p, 9.5 MB |
Low aerobic capacity in McArdle disease : A role for mitochondrial network impairment?
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Villarreal-Salazar, M. (Hospital Universitari Vall d'Hebron) ;
Santalla, A. (Universidad Pablo de Olavide) ;
Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Valenzuela, P.L. (Hospital Universitario 12 de Octubre (Madrid)) ;
Fiuza-Luces, C. (Hospital Universitario 12 de Octubre (Madrid)) ;
Andreu, A. L. (European Infrastructure for Translational Medicine) ;
Rodríguez-Aguilera, J.C. (Universidad Pablo de Olavide) ;
Martín, M.A. (Hospital Universitario 12 de Octubre (Madrid)) ;
Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ;
Vissing, J. (University of Copenhagen) ;
Lucia, A. (European University) ;
Krag, T.O. (University of Copenhagen) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e. g. , low peak oxygen uptake (VO)), a phenomenon traditionally attributed to reduced glycolytic flux and Krebs cycle anaplerosis. [...]
2022 - 10.1016/j.molmet.2022.101648
Molecular metabolism, Vol. 66 (november 2022)
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4.
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8 p, 618.0 KB |
A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
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Nogales, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Consuegra-García, Inés (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rubio, Juan C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Arenas, Joaquín (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cuadros, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fiuza-Luces, Carmen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lucia, Alejandro (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín, Miguel A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP on several genes and proteins of skeletal muscle in McArdle patients. [...]
2012 - 10.1371/journal.pone.0031718
PloS one, Vol. 7 (february 2012)
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5.
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11 p, 701.5 KB |
Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients
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Nogales, Gisela (Institut d'Investigació Biomèdica Sant Pau) ;
Ramos-Fransi, Alba (Institut d'Investigació Biomèdica Sant Pau) ;
Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Navas Madroñal, Miquel (Institut d'Investigació Biomèdica Sant Pau) ;
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mosquera, José Luis (Universitat de Barcelona. Departament d'Estadística) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Illa, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
Myasthenia gravis (MG) is an autoimmune disease characterized by the presence of autoantibodies, mainly against the acetylcholine receptor (AChR). The mechanisms triggering and maintaining this chronic disease are unknown. [...]
2014 - 10.1371/journal.pone.0091927
PloS one, Vol. 9 (march 2014)
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6.
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9 p, 279.8 KB |
Genotypic and phenotypic features of all Spanish patients with McArdle disease : a 2016 update
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Santalla, Alfredo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Encinar, Alberto Blázquez (Hospital Universitario 12 de Octubre (Madrid)) ;
Vieitez, Irene (Hospitalario Universitario de Vigo) ;
González-Quintana, Adrian (Instituto de Salud Carlos III) ;
Serrano-Lorenzo, Pablo (Instituto de Salud Carlos III) ;
Consuegra-García, Inés (Hospital Universitario 12 de Octubre (Madrid)) ;
Asensio, Sara (Instituto de Salud Carlos III) ;
Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
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) ;
Pareja-Galeano, Helios (Universidad Europea de Madrid) ;
Díez-Bermejo, Jorge (Universidad Europea de Madrid) ;
Pérez Ruiz, Margarita (Universidad Europea de Madrid) ;
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Arenas, Joaquín (Instituto de Salud Carlos III) ;
Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ;
Lucia, Alejandro (Universidad Europea de Madrid)
We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). [...]
2017 - 10.1186/s12864-017-4188-2
BMC genomics, Vol. 18 (november 2017)
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7.
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18 p, 1.2 MB |
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
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Koehorst, Emma (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) ;
Arechavala-Gomeza, Virginia (Ikerbasque, Basque Foundation for Science) ;
Martínez-Piñeiro, Alicia (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. [...]
2020 - 10.3390/jcm9123939
Journal of clinical medicine, Vol. 9 (december 2020)
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8.
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8 p, 946.1 KB |
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Linares-Pardo, Ian (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) ;
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) ;
Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK) ;
Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK) ;
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ;
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) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona.
Departament de Medicina
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. [...]
2020 - 10.3390/genes11111321
Genes, Vol. 11 (november 2020)
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9.
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9 p, 816.6 KB |
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
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) ;
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ;
Coll-Cantí, Jaume (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) ;
Magaña, Jonathan J. (National Rehabilitation Institute (Mèxic)) ;
Murillo-Melo, Nadia M. (National Rehabilitation Institute (Mèxic)) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Monckton, Darren G. (University of Glasgow) ;
Cumming, Sarah A. (University of Glasgow) ;
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) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica -protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. [...]
2020 - 10.3390/genes11070757
Genes, Vol. 11 (july 2020)
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