Valanzano, Anna (2025) Evaluation of the synergistic effects of adeno-associated viral vector-mediated gene therapy and modulation of altered secondary pathways in Pompe disease. [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | Evaluation of the synergistic effects of adeno-associated viral vector-mediated gene therapy and modulation of altered secondary pathways in Pompe disease. |
| Autori: | Autore Email Valanzano, Anna anna.valanzano@unina.it |
| Data: | 11 Dicembre 2025 |
| Numero di pagine: | 63 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dipartimento: | Scienze Mediche Traslazionali |
| Dottorato: | Medicina clinica e sperimentale |
| Ciclo di dottorato: | 38 |
| Coordinatore del Corso di dottorato: | nome email Beguinot, Francesco francesco.beguinot@unina.it |
| Tutor: | nome email Parenti, Giancarlo [non definito] |
| Data: | 11 Dicembre 2025 |
| Numero di pagine: | 63 |
| Parole chiave: | Gene Therapy, Pompe Disease, Oxidative Stress |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/38 - Pediatria generale e specialistica |
| Informazioni aggiuntive: | CICLO 38° |
| Depositato il: | 09 Gen 2026 10:11 |
| Ultima modifica: | 12 Ago 2026 05:37 |
| URI: | https://www.fedoa.unina.it/id/eprint/16035 |
Abstract
Pompe disease is an inherited metabolic myopathy caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to glycogen accumulation. In addition to the primary enzymatic defect, secondary alterations—including impaired autophagy, inflammation, mitochondrial dysfunction, and oxidative stress—contribute to disease pathogenesis and may affect therapeutic outcomes. Enzyme replacement therapy (ERT) is currently the only approved treatment, while alternative strategies such as AAV-based gene therapies are still under investigation. This study aims to assess the combined effects of gene therapy and modulation of oxidative stress.
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