Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/46104
Campo DC Valoridioma
dc.contributor.authorSalido, Eduardo C.en_US
dc.contributor.authorLi, Xiao M.en_US
dc.contributor.authorLu, Yangen_US
dc.contributor.authorWang, Xiaen_US
dc.contributor.authorSantana, Alfredoen_US
dc.contributor.authorRoy-Chowdhury, Namitaen_US
dc.contributor.authorTorres, Armandoen_US
dc.contributor.authorShapiro, Larry J.en_US
dc.contributor.authorRoy-Chowdhury, Jayantaen_US
dc.date.accessioned2018-11-23T01:24:54Z-
dc.date.available2018-11-23T01:24:54Z-
dc.date.issued2006en_US
dc.identifier.issn0027-8424en_US
dc.identifier.urihttp://hdl.handle.net/10553/46104-
dc.description.abstractMutations in the alanine-glyoxylate amino transferase gene (AGXT) are responsible for primary hyperoxaluria type I, a rare disease characterized by excessive hepatic oxalate production that leads to renal failure. We generated a null mutant mouse by targeted mutagenesis of the homologous gene, Agxt, in embryonic stem cells. Mutant mice developed normally, and they exhibited hyperoxaluria and crystalluria. Approximately half of the male mice in mixed genetic background developed calcium oxalate urinary stones. Severe nephrocalcinosis and renal failure developed after enhancement of oxalate production by ethylene glycol administration. Hepatic expression of human AGT1, the protein encoded by AGXT, by adenoviral vector-mediated gene transfer in Agxt(-/-) mice normalized urinary oxalate excretion and prevented oxalate crystalluria. Subcellular fractionation and immunofluorescence studies revealed that, as in the human liver, the expressed wild-type human AGT1 was predominantly localized in mouse hepatocellular peroxisomes, whereas the most common mutant form of AGT1 (G170R) was localized predominantly in the mitochondria.en_US
dc.languageengen_US
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_US
dc.sourceProceedings of the National Academy of Sciences of the United States of America [ISSN 0027-8424], v. 103, p. 18249-18254en_US
dc.subject32 Ciencias médicasen_US
dc.subject3205 Medicina internaen_US
dc.subject.otherGene therapyen_US
dc.subject.otherKnockout mouseen_US
dc.subject.otherOxalateen_US
dc.subject.otherUrolithiasisen_US
dc.subject.otherNephrocalcinosisen_US
dc.titleAlanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transferen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1073/pnas.0607218103en_US
dc.identifier.scopus33845323365-
dc.contributor.authorscopusid14023538500-
dc.contributor.authorscopusid56027231200-
dc.contributor.authorscopusid8063879500-
dc.contributor.authorscopusid55413994800-
dc.contributor.authorscopusid55617275900-
dc.contributor.authorscopusid35494008000-
dc.contributor.authorscopusid56712278500-
dc.contributor.authorscopusid7402091340-
dc.contributor.authorscopusid35482731200-
dc.description.lastpage18254en_US
dc.description.firstpage18249en_US
dc.relation.volume103en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages7en_US
dc.utils.revisionen_US
dc.date.coverdateNoviembre 2006en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr9,643
dc.description.jcrqQ1
dc.description.scieSCIE
dc.description.erihplusERIH PLUS
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Rendimiento humano, ejercicio físico y salud-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.orcid000-0002-1075-9948-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameSantana Rodríguez, Alfredo-
Colección:Artículos
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