Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I()

Primary Hyperoxaluria Type I (PH1) is a disorder of glyoxylate metabolism caused by mutations in the human AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5′-phosphate (PLP) dependent enzyme. Previous investigations highlighted that, although PH1 is charac...

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Detalles Bibliográficos
Autores principales: Oppici, Elisa, Montioli, Riccardo, Lorenzetto, Antonio, Bianconi, Silvia, Borri Voltattorni, Carla, Cellini, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271384/
https://www.ncbi.nlm.nih.gov/pubmed/22018727
http://dx.doi.org/10.1016/j.ymgme.2011.09.033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271384/
https://www.ncbi.nlm.nih.gov/pubmed/22018727
http://dx.doi.org/10.1016/j.ymgme.2011.09.033

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