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               REFERENCES
               1.       Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of
                   registry data. Lancet 2009;374:1986-96.  DOI
               2.       Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30.  DOI  PubMed  PMC
               3.       Rigoldi M, Concolino D, Morrone A, et al. Intrafamilial phenotypic variability in four families with Anderson-Fabry disease. Clin
                   Genet 2014;86:258-63.  DOI
               4.       Tuttolomondo A, Simonetta I, Duro G, et al. Inter-familial and intra-familial phenotypic variability in three Sicilian families with
                   Anderson-Fabry disease. Oncotarget 2017;8:61415-24.  DOI  PubMed  PMC
                                                                                                    18
               5.       Orsborne C, Anton-Rodrigez JM, Sherratt N, et al. Inflammatory fabry cardiomyopathy demonstrated using simultaneous [ F]-FDG
                   PET-CMR. JACC Case Rep 2023;15:101863.  DOI  PubMed  PMC
               6.       Rozenfeld PA, de Los Angeles Bolla M, Quieto P, et al. Pathogenesis of fabry nephropathy: the pathways leading to fibrosis. Mol
                   Genet Metab 2020;129:132-41.  DOI
               7.       Land WG. The role of damage-associated molecular patterns (DAMPs) in human diseases: part II: DAMPs as diagnostics, prognostics
                   and therapeutics in clinical medicine. Sultan Qaboos Univ Med J 2015;15:e157-70.  DOI  PubMed  PMC
               8.       Rozenfeld P, Agriello E, De Francesco N, Martinez P, Fossati C. Leukocyte perturbation associated with Fabry disease. J
                   Inherit Metab Dis 2009;32:67-77.  DOI
               9.       De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Fabry disease peripheral blood immune cells release
                   inflammatory cytokines: Role of globotriaosylceramide. Mol Genet Metab 2013;109:93-9.  DOI
               10.      Biancini GB, Vanzin CS, Rodrigues DB, et al. Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry
                   patients treated with enzyme replacement therapy. Biochim Biophys Acta 2012;1822:226-32.  DOI
               11.      De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Higher apoptotic state in Fabry disease peripheral blood
                   mononuclear cells: effect of globotriaosylceramide. Mol Genet Metab 2011;104:319-24.  DOI
               12.      Moore DF, Goldin E, Gelderman MP, et al. Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear
                   cells from children with Fabry disease. Acta Paediatr 2008;97:48-52.  DOI
               13.      Heo SH, Kang E, Kim YM, et al. Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
                   Med Genet 2017;54:771-80.  DOI  PubMed  PMC
               14.      Moore DF, Krokhin OV, Beavis RC, et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify
                   biological abnormalities. Proc Natl Acad Sci USA 2007;104:2873-8.  DOI  PubMed  PMC
               15.      Pandey MK. Exploring pro-inflammatory immunological mediators: unraveling the mechanisms of neuroinflammation in lysosomal
                   storage diseases. Biomedicines 2023;11:1067.  DOI  PubMed  PMC
               16.      Frustaci A, Verardo R, Grande C, et al. Immune-mediated myocarditis in Fabry disease cardiomyopathy. J Am Heart Assoc
                   2018;7:e009052.  DOI  PubMed  PMC
               17.      Schumann A, Schaller K, Belche V, et al. Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism
                   and turnover in renal epithelial cells. J Inherit Metab Dis 2021;44:1039-50.  DOI
               18.      An JH, Hong SE, Yu SL, et al. Ceria-zirconia nanoparticles reduce intracellular globotriaosylceramide accumulation and attenuate
                   kidney injury by enhancing the autophagy flux in cellular and animal models of Fabry disease. J Nanobiotechnol 2022;20:125.  DOI
                   PubMed  PMC
               19.      Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab 2017;122:19-27.
                   DOI  PubMed
               20.      Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts
                   by an enzyme inhibitor. Nat Med 1999;5:112-5.  DOI  PubMed
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