ArticleNeurology. Genetics2020
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.
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6 citing papers in PubMed, 8 citations in OpenAlex.
- Nuclear MBL-1 modulates mitochondrial morphology through carnitine palmitoyltransferase inProceedings of the National Academy of Sciences of the United States of America · 2026Article
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- AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action.Science advances · 2024Article
- Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs.Scientific reports · 2023Article
- Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy.Molecular therapy. Nucleic acids · 2022Article
- Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.Journal of clinical medicine · 2021Article
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17 authors at 1 institution in 2 countries.
Alfonsina Ballester-LopezNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.ORCID 0000-0002-8922-1664
Judit Núñez-ManchónNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Emma KoehorstNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Ian Linares-PardoNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Miriam AlmendroteNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Giuseppe LucenteNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Nicolau GuanyabensNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Marta Lopez-OsiasNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Adrián Suárez-MesaNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Shaliza Ann HanickNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Jakub ChojnackiNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Alejandro LuciaNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Guillem Pintos-MorellNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Jaume Coll-CantíNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Alicia Martínez-PiñeiroNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Alba Ramos-FransiNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Gisela Nogales-GadeaNeuromuscular and Neuropediatric Research Group (A.B.-L., J.N.-M., E.K., I.L.-P., M.A., G.L., M.L.-O., A.S.-M., S.A.H., G.P.-M., J.C.-C., A.M.-P., A.R.-F., G.N.-G.), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (A.B.-L., G.P.-M., J.C.-C., G.N.-G.), Instituto de Salud Carlos III, Madrid; Neuromuscular Pathology Unit. Neurology Service. Neuroscience department (M.A., G.L., N.G., J.C.-C., A.M.-P., A.R.-F.), Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona; IrsiCaixa AIDS Research Institute (J.C.), Badalona, Spain; Faculty of Sport Sciences (A.L.), Universidad Europea de Madrid; Instituto de Investigación Hospital 12 de Octubre (i+12) (A.L.), Madrid; and Division of Rare Diseases. University Hospital Vall d'Hebron (G.P.-M.), Barcelona, Spain.
Hebron University · PS
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).
methodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG) expansion and detected RNA foci and muscleblind like 1 (MBNL1) through 3D reconstruction. We studied dystrophia myotonica protein kinase (DMPK) expression and splicing alterations of MBNL1, insulin receptor, and sarcoplasmic reticulum Ca(2+)-ATPase 1.
resultsThree-dimensional analysis showed that RNA foci (nuclear and/or cytoplasmic) were present in 45%-100% of DM1-derived myoblasts we studied (range: 0-6 foci per cell). RNA foci represented <0.6% of the total myoblast nuclear volume. CTG expansion size was associated with the number of RNA foci per myoblast (
conclusionsCTG expansion size modulates RNA foci number in myoblasts derived from patients with DM1. MBNL1 sequestration plays only a minor role in the pathobiology of the disease in these cells. Higher number of cytoplasmic RNA foci is related to an early onset of the disease, a finding that should be corroborated in future studies.
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