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dc.contributor.advisorSalido Ruiz, Eduardo Carlos
dc.contributor.authorMastantuoni, Matteoes_ES
dc.contributor.otherMáster Universitario en Biomedicinaes_ES
dc.date.accessioned2018-05-09T07:54:13Z
dc.date.available2018-05-09T07:54:13Z
dc.date.issued2018es_ES
dc.identifier.urihttp://riull.ull.es/xmlui/handle/915/7374
dc.description.abstractPrimary hyperoxalurias (PHs) are rare inborn errors of glyoxylate metabolism characterized by excessive synthesis and excretion of the metabolic end-product oxalate and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract. About one third of the cases of Primary hyperoxaluria type 1 (PH1) is due to a unique protein trafficking defect in which AGT is mistargeted from peroxisomes to mitochondria, where it is metabolically useless. Pharmacological chaperones have been shown to correct protein misfolding in several genetic diseases. We aimed to test the effect of B6-vitamers (PM, PL, PN) on AGT mitochondrial mistargeting in primary culture of hepatocytes from AGT*LRM mice, which express the mutant mistargeting AGT protein (with mutation G170R in the minor haplotype of human AGT). Using image analysis tools and statistics coefficient to quantify the degree of “AGT mistargeting”.en
dc.format.mimetypeapplication/pdfes_ES
dc.language.isoenes_ES
dc.rightsNo autorizo la publicación del documentoes_ES
dc.subjectEnfermedades genéticas
dc.subjectProteínas
dc.titleEffect of pharmacochaperones in AGT mistargetinges_ES
dc.typeinfo:eu-repo/semantics/masterThesises_ES


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