Academic Journal
Natural compound boldine lessens Myotonic Dystrophy type 1 phenotypes in DM1 Drosophila models, patient-derived cell lines, and HSA[LR] Mice
| العنوان: | Natural compound boldine lessens Myotonic Dystrophy type 1 phenotypes in DM1 Drosophila models, patient-derived cell lines, and HSA[LR] Mice |
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| المؤلفون: | Álvarez-Abril, Mari Carmen, García-Alcover, Irma, Colonques-Bellmunt, Jordi, Garijo, Raquel, Pérez-Alonso, Manuel, Artero Allepuz, Rubén D., López Castel, Arturo |
| المصدر: | Mari Carmen Álvarez-Abril Irma García-Alcover Jordi Colonques-Bellmunt Raquel Garijo Manuel Pérez-Alonso Rubén Artero Arturo López-Castel 2023 Natural compound boldine lessens Myotonic Dystrophy type 1 phenotypes in DM1 Drosophila models, patient-derived cell lines, and HSA[LR] Mice International Journal Of Molecular Sciences 24 12 9820 |
| بيانات النشر: | MDPI |
| سنة النشر: | 2024 |
| المجموعة: | Universitat de València: Roderic - Repositorio de contenido libre |
| مصطلحات موضوعية: | myotonic dystrophy, rare disease, Drosophila, drug development, UNESCO::CIENCIAS DE LA VIDA |
| الوصف: | Myotonic dystrophy type 1 (DM1) is a complex rare disorder characterized by progressive muscle dysfunction, involving weakness, myotonia, and wasting, but also exhibiting additional clinical signs in multiple organs and systems. Central dysregulation, caused by an expansion of a CTG trinucleotide repeat in the DMPK gene's 3' UTR, has led to exploring various therapeutic approaches in recent years, a few of which are currently under clinical trial. However, no effective disease-modifying treatments are available yet. In this study, we demonstrate that treatments with boldine, a natural alkaloid identified in a large-scale Drosophila-based pharmacological screening, was able to modify disease phenotypes in several DM1 models. The most significant effects include consistent reduction in nuclear RNA foci, a dynamic molecular hallmark of the disease, and noteworthy anti-myotonic activity. These results position boldine as an attractive new candidate for therapy development in DM1. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1661-6596 |
| Relation: | International Journal Of Molecular Sciences, 2023, vol. 24, num. 12, p. 9820; Álvarez-Abril, M.C.; García-Alcover, I.; Colonques-Bellmunt, J.; Garijo, R.; Pérez-Alonso, M.; Artero, R.; López-Castel, A. Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSALR Mice. Int. J. Mol. Sci. 2023, 24, 9820. https://doi.org/10.3390/ijms24129820; https://hdl.handle.net/10550/95600; 160773; https://www.mdpi.com/1422-0067/24/12/9820 |
| DOI: | 10.3390/ijms24129820 |
| الاتاحة: | https://hdl.handle.net/10550/95600 https://doi.org/10.3390/ijms24129820 https://www.mdpi.com/1422-0067/24/12/9820 |
| Rights: | open access |
| رقم الانضمام: | edsbas.ED928191 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16616596 |
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| DOI: | 10.3390/ijms24129820 |