Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy
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| Název: | Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy |
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| Autoři: | Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch |
| Přispěvatelé: | Basic (bio-) Medical Sciences, Division of Gene Therapy & Regenerative Medicine, Faculty of Medicine and Pharmacy |
| Zdroj: | Mol Metab Articles publicats en revistes (Farmacologia, Toxicologia i Química Terapèutica) Dipòsit Digital de la UB Universidad de Barcelona Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Molecular Metabolism, Vol 81, Iss, Pp 101899-(2024) |
| Informace o vydavateli: | Elsevier BV, 2024. |
| Rok vydání: | 2024 |
| Témata: | 0301 basic medicine, Cardiomegaly, Glycogen/metabolism, Glycogen Storage Disease Type II/genetics, Mice, 03 medical and health sciences, Gene therapy, SDG 3 - Good Health and Well-being, Humans, Animals, Genetic Therapy/methods, Muscle, Skeletal, Internal medicine, 0303 health sciences, Muscle, Skeletal/metabolism, Glycogen Storage Disease Type II, Malalties neurodegeneratives, Pompe disease, AAV, Neurodegenerative Diseases, Genetic Therapy, RC31-1245, Rats, 3. Good health, Rat model, Teràpia genètica, Myopathies, Cardiomegaly/metabolism, Original Article, Glycogen metabolism, Glycogen |
| Popis: | Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs |
| Druh dokumentu: | Article Other literature type |
| Popis souboru: | application/pdf |
| Jazyk: | English |
| ISSN: | 2212-8778 |
| DOI: | 10.1016/j.molmet.2024.101899 |
| Přístupová URL adresa: | https://pubmed.ncbi.nlm.nih.gov/38346589 https://hdl.handle.net/2445/217184 https://doaj.org/article/51f4889c5f3c445fbc764529166584d8 https://ddd.uab.cat/record/306006 https://biblio.vub.ac.be/vubir/treatment-of-infantileonset-pompe-disease-in-a-rat-model-with-muscledirected-aav-gene-therapy(d4f3da83-7591-48a2-9d0c-1dbf9749a0f6).html |
| Rights: | CC BY NC ND |
| Přístupové číslo: | edsair.doi.dedup.....ebcb2978ba064d3922755b2b94a6eac2 |
| Databáze: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstrakt: | Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs |
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| ISSN: | 22128778 |
| DOI: | 10.1016/j.molmet.2024.101899 |