Damiano, Carla (2020) Secondary abnormalities in lysosomal storage diseases. [Tesi di dottorato]


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Item Type: Tesi di dottorato
Resource language: English
Title: Secondary abnormalities in lysosomal storage diseases
Damiano, Carlacarla.damiano@unina.it
Date: 12 March 2020
Number of Pages: 57
Institution: Università degli Studi di Napoli Federico II
Department: Scienze Mediche Traslazionali
Dottorato: Medicina clinica e sperimentale
Ciclo di dottorato: 32
Coordinatore del Corso di dottorato:
Beguinot, Francescobeguino@unina.it
Parenti, GiancarloUNSPECIFIED
Date: 12 March 2020
Number of Pages: 57
Keywords: Pompe disease, oxidative stress, autophagy
Settori scientifico-disciplinari del MIUR: Area 06 - Scienze mediche > MED/03 - Genetica medica
Area 06 - Scienze mediche > MED/38 - Pediatria generale e specialistica
Date Deposited: 26 Mar 2020 15:02
Last Modified: 17 Nov 2021 10:09
URI: http://www.fedoa.unina.it/id/eprint/13008

Collection description

Pompe Disease (PD) is a severe, progressive and highly debilitating myopathy due to mutations of the GAA gene and acid alpha-glucosidase (GAA) deficiency. Glycogen storage in cells and tissues and impairment of autophagy are well characterized. However other secondary abnormalities of cellular pathways need further characterization. We focused on the study of the interactions between oxidative stress and the abnormalities of the lysosomal-autophagic pathway and the identification of novel biomarkers to treat PD. The aim is to improve the efficacy of the existing therapies, to develop a better disease diagnosis and follow up of patients. We believe that our studies provide: - a complementary strategy to address some of the limitations of ERT to improve effectiveness: most of the small-molecules tested in this research, such as antioxidants, are approved for human therapy. Should our preclinical studies prove successful, the translation into clinical trials could be immediate. - monitoring the progressing of the disease; - optimization of therapies’ costs: ERT is highly expensive: 300.000-600.000 euro/year for a single patient; - clues for the identification of new therapeutic targets and agents.


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