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Migalastat HCl reduces globotriaosylsphingosine (Lyso- Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
dc.contributor.author | Young-Gqamana, Brandy | pt_BR |
dc.contributor.author | Brignol, N. | pt_BR |
dc.contributor.author | Chang, Hui-Hwa | pt_BR |
dc.contributor.author | Khanna, R. | pt_BR |
dc.contributor.author | Soska, R. | pt_BR |
dc.contributor.author | Fuller, Maria | pt_BR |
dc.contributor.author | Sitaraman, Sheela | pt_BR |
dc.contributor.author | Germain, Dominique P. | pt_BR |
dc.contributor.author | Giugliani, Roberto | pt_BR |
dc.contributor.author | Hughes, Derralynn A. | pt_BR |
dc.contributor.author | Mehta, Atul B. | pt_BR |
dc.contributor.author | Nicholls, Kathy | pt_BR |
dc.contributor.author | Boudes, Pol F. | pt_BR |
dc.contributor.author | Lockhart, D.J. | pt_BR |
dc.contributor.author | Valenzano, K.J. | pt_BR |
dc.contributor.author | Benjamin, Elfrida R. | pt_BR |
dc.date.accessioned | 2019-10-10T03:49:03Z | pt_BR |
dc.date.issued | 2013 | pt_BR |
dc.identifier.issn | 1932-6203 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/200305 | pt_BR |
dc.description.abstract | Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A (a-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3). Migalastat hydrochloride (GR181413A) is a pharmacological chaperone that selectively binds, stabilizes, and increases cellular levels of a-Gal A. Oral administration of migalastat HCl reduces tissue GL-3 in Fabry transgenic mice, and in urine and kidneys of some FD patients. A liquid chromatography-tandem mass spectrometry method was developed to measure lyso-Gb3 in mouse tissues and human plasma. Oral administration of migalastat HCl to transgenic mice reduced elevated lyso-Gb3 levels up to 64%, 59%, and 81% in kidney, heart, and skin, respectively, generally equal to or greater than observed for GL-3. Furthermore, baseline plasma lyso-Gb3 levels were markedly elevated in six male FD patients enrolled in Phase 2 studies. Oral administration of migalastat HCl (150 mg QOD) reduced urine GL-3 and plasma lyso-Gb3 in three subjects (range: 15% to 46% within 48 weeks of treatment). In contrast, three showed no reductions in either substrate. These results suggest that measurement of tissue and/or plasma lyso-Gb3 is feasible and may be warranted in future studies of migalastat HCl or other new potential therapies for FD. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | PLoS ONE. San Francisco. Vol. 8, no. 3 (Mar. 2013), e57631, 14 p. | pt_BR |
dc.rights | Open Access | en |
dc.subject | Camundongos transgênicos | pt_BR |
dc.subject | Doença de Fabry | pt_BR |
dc.title | Migalastat HCl reduces globotriaosylsphingosine (Lyso- Gb3) in Fabry transgenic mice and in the plasma of Fabry patients | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 000911117 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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