Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A (2013) Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease. PLoS Genet 9:e1003632.2
Guce AI, Clark NE, Salgado N, Ivanen DR, Kulminskaya AA, Brumer H, Garman SC (2010) Catalytic mechanism of human a-galactosidase. J Biol Chem 285:3625–3632
Article CAS PubMed Google Scholar
Van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG (2020) Lyso-glycosphingolipids: presence and consequences. Essays Biochem 64:565–578
Article PubMed PubMed Central Google Scholar
Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:1–49
Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak E (2013) Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 8:47
Article PubMed PubMed Central Google Scholar
Ravarotto V, Simioni F, Carraro G, Bertoldi G, Pagnin E, Calò LA (2018) Oxidative stress and cardiovascular-renal damage in Fabry disease: is there room for a pathophysiological involvement? J Clin Med 7:409
Article CAS PubMed PubMed Central Google Scholar
Rozenfeld P, Feriozzi S (2017) Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab 122:19–27
Article CAS PubMed Google Scholar
Lee MH, Choi N, Jeo YJ, Jung SC (2012) Possible role of transforming growth factor-B1 and vascular endothelial growth factor in Fabry disease nephropathy. Int J Mo Med 30:1275–1280
Sanchez-Niño MD, Sanz AB, Carrasco S, Saleem MA, Mathieson PW, Valdivielso JM, Ruiz-Ortega M, Egido J, Ortiz A et al (2011) Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 26:1797–1802
Jeon YJ, Jun N, Park J-W, Park HY, Jung SC (2015) Epithelial–mesenchymal transition in kidney tubular epithelial cells induced by globotriaosylsphingosine and globotriaosylceramide. PLoS ONE 10:e0136442
Article PubMed PubMed Central Google Scholar
Chen KH, Chien Y, Wang KL, Leu HB, Hsiao CY, Lai YH, Wang CY, Chang YL, Lin SJ, Niu DM, Chiou SH, Yu WC (2016) Evaluation of proinflammatory prognostic biomarkers for Fabry cardiomyopathy with enzyme replacement therapy. Can J Cardiol 32(1221):e1-1221.e9
Hayashi Y, Hanawa H, Jiao S, Hasegawa G, Ohno Y, Yoshida K, Suzuki T, Kashimura T, Obata H, Tanaka K, Watanabe T, Minamino T (2015) Elevated endomyocardial biopsy macrophage-related markers in intractable myocardial diseases. Inflammation 38:2288–2299
Ravarotto V, Simioni F, Pagnin E, Davis PA, Calò LA (2018) Oxidative stress-chronic kidney disease-cardiovascular disease: a vicious circle. Life Sci 210:125–131
Article CAS PubMed Google Scholar
Ravarotto V, Bertoldi G, Innico G, Gobbi L, Calò LA (2021) The pivotal role of oxidative stress in the pathophysiology of cardiovascular-renal remodeling in kidney disease. Antioxidants 10:1041
Article CAS PubMed PubMed Central Google Scholar
Ravarotto V, Carraro G, Pagnin E, Bertoldi G, Simioni F, Maiolino G, Martinato M, Landini L, Davis PA, Calò LA (2018) Oxidative stress and the altered reaction to it in Fabry disease: a possible target for cardiovascular-renal remodeling? PLoS One 13:e0204618
Article PubMed PubMed Central Google Scholar
Lenders M, Brand E (2021) Fabry disease: the current treatment landscape. Drugs 81:635–645
Article CAS PubMed PubMed Central Google Scholar
Sies H et al (1985) Oxidative stress. Academic Press, London, UK
Schieber M, Chandel NS (2014) ROS function in redox signaling and oxidative stress. Curr Biol 24:R453
Article CAS PubMed PubMed Central Google Scholar
Ayala A, Muñoz MF, Argüelles S (2014) Lipid peroxidation: production, metabolism, and signaling mechanisms of malondialdehyde and 4-hydroxy-2-nonenal. Oxid Med Cell Longev 2014:360438
Article PubMed PubMed Central Google Scholar
Ravarotto V, Bertoldi G, Stefanelli LF, Nalesso F, Calò LA (2022) Pathomechanism of oxidative stress in cardiovascular renal remodeling and therapeutic strategies. Kidney Res Clin Pract 41:533–544
Article PubMed PubMed Central Google Scholar
Shen JS, Meng XL, Moore DF, Quirk JM, Shayma JA, Schiffmann R, Kaneski CR (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95:163–168
Article CAS PubMed PubMed Central Google Scholar
Chiou CC, Chang PY, Chan EC, Wu TL, Tsao KC, Wu JT (2003) Urinary 8-hydroxydeoxyguanosine and its analogs as DNA marker of oxidative stress: development of an ELISA and measurement in both bladder and prostate cancers. Clin Chim Acta 334:87–94
Article CAS PubMed Google Scholar
Chen KH, Chou YC, Hsiao CY, Chien Y, Wang KL, Lai YH, Chang YL, Niu DM, Yu WC (2017) Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with fabry cardiomyopathy. Biochem Biophys Res Commun 486:293–299
Article CAS PubMed Google Scholar
Chimenti C, Scopelliti F, Vulpis E, Tafani M, Villanova L, Verardo R, De Paulis R, Russo MA, Frustaci A (2015) Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy. Hum Pathol 46:1760–1768
Article CAS PubMed Google Scholar
Biancini GB, Moura DJ, Manini PR, Faverzani JL, Netto CB, Deon M, Giugliani R, Saffi J, Vargas CR (2015) DNA damage in Fabry patients: an investigation of oxidative damage and repair. Mutat Res Genet Toxicol Environ Mutagen 784–785:31–36
Shu L, Vivekanandan-Giri A, Pennathur S, Smid BE, Aerts JM, Hollak CE, Shayman JA (2014) Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease. Kidney Int 86:58–66
Article CAS PubMed PubMed Central Google Scholar
Shen JS, Arning E, West ML, Day S, Chen S, Meng XL, Forni S, McNeill N, Goker- Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T (2017) Tet-rahydrobiopterin deficiency in the pathogenesis of Fabry disease. Hum Mol Genet 26:1182–1192
Article CAS PubMed Google Scholar
Namdar M, Gebhard C, Studiger R, Shi Y, Mocharla P, Schmied C, Brugada P, Lüscher TF, Camici GC (2012) Glo-botriaosylsphingosine accumulation and not alpha-galactosidase-a deficiency causes endothelial dysfunction in Fabry disease. PloS ONE 7:e36373
Article CAS PubMed PubMed Central Google Scholar
Sun J, Druhan LJ, Zweier JL (2010) Reactive oxygen and nitrogen species regulate inducible nitric oxide synthase function shifting the balance of nitric oxide and superoxide production. Arch Biochem Biophys 494:130–137
Article CAS PubMed Google Scholar
Bodary PF, Shen Y, Vargas FB, Bi X, Ostenso KA, Gu S (2005) Alpha-galactosidase a deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation 111:629–632
Article CAS PubMed Google Scholar
Biancini GB, Vanzin CS, Rodrigues DB, Deon M, Ribas GS, Barschak AG, Manfredini V, Netto CBO, Jardim LB, Giugliani R, Vargas CR (2012) Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. Biochim Biophys Acta 1822:226–232
留言 (0)