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dc.contributor.authorBedia Girbés, Carmen-
dc.contributor.authorCamacho, Luz-
dc.contributor.authorAbad, José Luis-
dc.contributor.authorFabriàs, Gemma-
dc.contributor.authorLevade, Thierry-
dc.date.accessioned2012-04-11T09:53:27Z-
dc.date.available2012-04-11T09:53:27Z-
dc.date.issued2010-
dc.identifier.citationJournal of Lipid Researches_ES
dc.identifier.issn0022-2275-
dc.identifier.urihttp://hdl.handle.net/10261/48102-
dc.description.abstractAcid ceramidase (aCDase) is one of several enzymes responsible for ceramide degradation within mammalian cells. As such, aCDase regulates the intracellular levels of the bioactive lipid ceramide. An inherited deficiency of aCDase activity results in Farber disease (FD), also called lipogranulomatosis, which is characterized by ceramide accumulation in the tissues of patients. Diagnosis of FD is confirmed by demonstration of a deficient aCDase activity and the subsequent storage of ceramide. Existing methods include extremely complex assays, many of them using radiolabeled compounds. Therefore, the aCDase assay and the in vitro enzymatic diagnosis of FD are still performed in only a very limited number of specialized laboratories. Here, the new fluorogenic substrate Rbm14-12 was synthesized and characterized as a new tool to determine aCDase activity. The resulting optimized assay was performed in 96-well plates, and different fibroblast and lymphoid cell lines derived from FD patients and controls were tested to measure aCDase activity. As a result, the activity in cells of FD patients was found to be very low or even null. This new fluorogenic method offers a very easy and rapid way for specific and accurate determination of aCDase activity and, consequently, for diagnosis of FD.es_ES
dc.language.isoenges_ES
dc.publisherAmerican Society for Biochemistry and Molecular Biologyes_ES
dc.rightsclosedAccesses_ES
dc.subjectAcid ceramidasees_ES
dc.subjectFarber diseasees_ES
dc.subjectDiagnosises_ES
dc.subjectFluorogenic assayes_ES
dc.titleA simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber diseasees_ES
dc.typeartículoes_ES
dc.identifier.doi10.1194/jlr.D010033-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/10.1194/jlr.D010033es_ES
dc.identifier.e-issn1539-7262-
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