Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/61997
Registo completo
Campo DC | Valor | Idioma |
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dc.contributor.author | Quinta, Rui | por |
dc.contributor.author | Rodrigues, Daniel | por |
dc.contributor.author | Assunção, Marisa | por |
dc.contributor.author | Macedo, Maria Fatima | por |
dc.contributor.author | Azevedo, Olga | por |
dc.contributor.author | Cunha, Damião | por |
dc.contributor.author | Oliveira, Pedro | por |
dc.contributor.author | Sá Miranda, Maria Clara | por |
dc.date.accessioned | 2019-11-08T16:27:19Z | - |
dc.date.issued | 2014-02-15 | - |
dc.identifier.citation | Quinta, R., Rodrigues, D., Assunção, M., Macedo, M. F., Azevedo, O., Cunha, D., ... & Miranda, M. C. S. (2014). Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy. Gene, 536(1), 97-104. | por |
dc.identifier.issn | 0378-1119 | - |
dc.identifier.uri | https://hdl.handle.net/1822/61997 | - |
dc.description.abstract | Fabry disease is an X-linked lysosomal storage disease (LSD) caused by deficient activity of α-Galactosidase A (α-Gal A). As a result, glycosphingolipids, mainly globotriaosylceramide (Gb3), progressively accumulate in body fluids and tissues. Studies aiming at the identification of secondary lipid alterations in Fabry disease may be potentially useful for the monitorization of the response to enzyme replacement therapy (ERT) and development of future therapies. The focus of this study was to evaluate if α-Gal A deficiency has an effect on two key groups of molecules of sphingolipids metabolism: glucosylceramides (GlucCers) and ceramides (Cers). Studies performed in a mouse model of Fabry disease showed reduced level of GlucCer and normal level of Cer in plasma, liver, spleen, kidney and heart. Moreover, analysis of GlucCer isoforms in Fabry knockout mice showed that GlucCer isoforms are unequally reduced in different tissues of these animals. ERT had a specific effect on the liver's GlucCer levels of Fabry knockout mice, increasing hepatic GlucCer to the levels observed in wild type mice. In contrast to Fabry knockout mice, plasma of Fabry patients had normal GlucCer and Cer but an increased GlucCer/Cer ratio. This alteration showed a positive correlation with plasma globotriaosylsphingosine (lyso-Gb3) concentration. In conclusion, this work reveals novel secondary lipid imbalances caused by α-Gal A deficiency. | por |
dc.description.sponsorship | FEDER funds through the Operational Competitiveness Programme—COMPETE and by National Funds through FCT—Fundação para a Ciência e a Tecnologia under the project FCOMP-01-0124-FEDER-022718 (PEst-C/SAU/LA0002/2011). The sponsors had no influence on the conception, study design, data collection, analysis or interpretation, manuscript writing as well as on the decision to submit the article for publication. R Quinta was supported by a fellowship from Fundação para a Ciência e Tecnologia (SFRH/BD/33447/2008). This work is part of the PhD thesis of R Quinta | por |
dc.language.iso | eng | por |
dc.publisher | Elsevier 1 | por |
dc.rights | closedAccess | por |
dc.subject | Adolescent | por |
dc.subject | Adult | por |
dc.subject | Animals | por |
dc.subject | Case-Control Studies | por |
dc.subject | Disease Models, Animal | por |
dc.subject | Fabry Disease | por |
dc.subject | Female | por |
dc.subject | Glucosylceramides | por |
dc.subject | Humans | por |
dc.subject | Male | por |
dc.subject | Mice | por |
dc.subject | Mice, Inbred C57BL | por |
dc.subject | Mice, Knockout | por |
dc.subject | Middle Aged | por |
dc.subject | Treatment Outcome | por |
dc.subject | Young Adult | por |
dc.subject | alpha-Galactosidase | por |
dc.subject | Enzyme Replacement Therapy | por |
dc.subject | Ceramide | por |
dc.subject | Glucosylceramide | por |
dc.subject | Fabry mice | por |
dc.title | Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy | por |
dc.type | article | por |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S0378111913015990 | por |
oaire.citationStartPage | 97 | por |
oaire.citationEndPage | 104 | por |
oaire.citationIssue | 1 | por |
oaire.citationVolume | 536 | por |
dc.identifier.eissn | 1879-0038 | - |
dc.identifier.doi | 10.1016/j.gene.2013.11.073 | por |
dc.date.embargo | 10000-01-01 | - |
dc.subject.fos | Ciências Médicas::Medicina Básica | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Gene | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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1-s2.0-S0378111913015990-main.pdf Acesso restrito! | 516,81 kB | Adobe PDF | Ver/Abrir |