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Littérature scientifique sur le sujet « Malattia di Pompe »
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Articles de revues sur le sujet "Malattia di Pompe"
Borelli, Elena, Maria Luisa Casciana, Claudia Salemi, Silvia Sordelli et Silvia Fasoli. « IperCKemia asintomatica : la malattia di Pompe late-onset ». Medico e Bambino pagine elettroniche 24, no 4 (30 avril 2021) : 105–8. http://dx.doi.org/10.53126/mebxxiv105.
Texte intégralSequenza, M. J., M. R. Loi, F. Londrino, P. Sale, S. Andrulli, A. Noce, O. Durante et al. « Sicurezza nella scelta dell'Inibitore di Pompa Protonica nel nefropatico cronico ». Giornale di Clinica Nefrologica e Dialisi 24, no 3 (26 janvier 2018) : 11–15. http://dx.doi.org/10.33393/gcnd.2012.1152.
Texte intégralConti, Adelaide, et Giovanni Zaninetta. « Accanimento terapeutico : esperienza in un reparto di cure palliative ». Medicina e Morale 48, no 4 (31 août 1999) : 721–36. http://dx.doi.org/10.4081/mem.1999.797.
Texte intégralde Berardinis, Daniela. « Ospedale e cronicità ». PSICOLOGIA DELLA SALUTE, no 3 (octobre 2021) : 13–18. http://dx.doi.org/10.3280/pds2021-003003.
Texte intégralGotia, Oana. « L’amore e la sessualità : valore e significato ». Medicina e Morale 62, no 4 (30 août 2013). http://dx.doi.org/10.4081/mem.2013.90.
Texte intégralThèses sur le sujet "Malattia di Pompe"
BRAGATO, CINZIA. « Generation and characterization of a zebrafish Pompe disease model to test the efficacy of 3-BrPA as a new therapeutic molecule ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2021. http://hdl.handle.net/10281/306482.
Texte intégralExcess glucose is stored as glycogen in skeletal muscle and liver as an energy substrate readily available through the glycolytic pathway. Perturbation of glycolytic enzymes results in glycogen storage disorders such as Pompe disease (PD) or glycogenosis type II. PD is an autosomal recessive metabolic disease with an estimated incidence of 1:40000 live births. PD is due to a defect of the lysosomal enzyme acid α-glucosidase (GAA), or acid maltase, necessary for glycogen degradation. The spectrum of disease severity encompasses a broad continuum of clinical phenotypes ranging from the most severe “classic” form, characterized by early childhood onset, severe cardiomyopathy, rapidly progressive course and fatal outcome before two years of age, to an “intermediate” infantile form expressing a milder phenotype, and to juvenile and adult forms characterized by prevalent involvement of skeletal muscle. The almost total deficiency of the GAA enzyme results in the severe infantile form, while partial deficiency is responsible for the intermediate and mild forms. Enzyme replacement therapy (ERT), where GAA is provided via intravenous infusion is the only therapy available since 2006. While ERT represented a major milestone in the treatment of patients with Pompe disease and it has been shown to be efficacious in infantile severe PD, not all late onset cases respond equally well to this treatment. Therefore, the correction of the skeletal muscle phenotype in late onset cases is still challenging, revealing a need for more effective therapies. GAA difficulties in restoring muscle function have been ascribed to a concomitant altered autophagy, a key molecular mechanism that maintains cellular homeostasis and ensures correct macromolecule turnover in the cell. However, it remains unclear how autophagy is disrupted in PD, since it is yet unknown if an excessive acceleration or reduction of this process is present. Notably, this recent defective autophagy finding in PD has stimulated both a reassessment of the pathogenic mechanisms as well as the investigation of new therapeutic approaches, including search for adjunctive and alternative therapies addressing both glycogen accumulation and autophagy. Among the small molecules to be explored for interfering with glycogen accumulation we have selected the Acid-3-Bromopyruvic (3-BrPA), an inhibitor of hexokinase (HK), which is a key glycolytic enzyme. In vitro and in vivo studies have reported this molecule to be an efficacious anti-tumor drug, in those tumor phenotypes in which cancer cells preferentially depend on glycolysis to produce adenosine triphosphate (ATP) for growth and proliferation. The anti-cancer property of this particular compound is due to its ability to inhibit glycolysis, by abolishing cell ATP production and consequently impeding the transformation by hexokinase of glucose into glucose-6- phosphate, and to trigger modulation of the autophagic process. Among the different hexokinase isoforms HKI, HKII, HKIII, and HKIV found in mammals, HKII is expressed at relatively high level only in skeletal muscle, adipose tissue, and heart. The aim of this project was to use this molecule, as an inhibitor of the key glycolytic enzyme hexokinase-II, to modulate glycogen incorporation into cells. We used zebrafish as in vivo model, in order to evaluate the effect of this specific molecule on the muscular system at subcellular detail. The demonstration of its role as HKII inhibitor and as an autophagy modulator, has created the basis for developing a new strategy to improve muscle function in PD patients.