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Dipòsit Digital de Documents de la UAB 4 registres trobats  La cerca s'ha fet en 0.01 segons. 
1.
18 p, 1.2 MB The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I / 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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2.
27 p, 1.8 MB An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I / López-Martínez, Andrea (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Soblechero-Martín, Patricia (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; de-la-Puente-Ovejero, Laura (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arechavala-Gomeza, Virginia (Instituto de Investigación Sanitaria Biocruces Bizkaia)
Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3' untranslated region (3'UTR) of the myotonic dystrophy protein kinase (DMPK) gene. [...]
2020 - 10.3390/genes11091109
Genes, Vol. 11 (september 2020)  
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3.
3 p, 180.5 KB Special Issue "Genetic Advances in Neuromuscular Disorders : From Gene Identification to Gene Therapy" / Arechavala-Gomeza, Virginia (Ikerbasque, Basque Foundation for Science, Bilbao) ; Gonzalez-Quereda, L. (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
2021 - 10.3390/genes12020242
Genes, Vol. 12 (february 2021)  
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4.
13 p, 1.6 MB Delivery is key: lessons learnt from developing splice-switching antisense therapies / Godfrey, Caroline (University of Oxford. Department of Physiology, Anatomy and Genetics) ; Desviat, Lourdes R. (Centro de Biología Molecular Severo Ochoa) ; Smedsrød, Bård (University of TromsØ. Department of Medical Biology) ; Piétri-Rouxel, France (Institut de Myologie (París, França)) ; Denti, Michela A. (Università di Trento. Centre for Integrative Biology) ; Disterer, Petra (University College London. Centre for Amyloidosis and Acute Phase Proteins) ; Lorain, Stéphanie (Institut de Myologie (París, França)) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Sardone, Valentina (University College London) ; Anwar, Rayan (Drug Discovery Informatics Lap, Qasemi-Research Center, Al-Qasemi Academic College) ; E. L. Andaloussi, Samir (Karolinska Institutet (Estocolm, Suècia). Department of Laboratory Medicine) ; Lehto, Taavi (University of Tartu. Institute of Technology) ; Khoo, Bernard (University College London. Centre for Neuroendocrinology) ; Brolin, Camilla (University of Copenhagen. Department of Cellular and Molecular Medicine) ; van Roon-Mom, Willeke M. C. (Leiden University Medical Center. DEpartment of Human Genetics) ; Goyenvalle, Aurélie (Université Versailles Saint Quentin) ; Aartsma-Rus, Annemieke (Leiden University Medical Center. Department of Human Genetics) ; Arechavala-Gomeza, Virginia (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Universitat Autònoma de Barcelona
The use of splice-switching antisense therapy is highly promising, with a wealth of pre-clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety of disorders has yet to be realized. [...]
2017 - 10.15252/emmm.201607199
EMBO Molecular Medicine, Vol. 9 Núm. 5 (2017) , p. 545-557  
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