Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria

The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem biosynthesis pathway. Enzyme-intermediates with increasing number of PBG molecules...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Bustad, Helene J., Vorland, Marta, Rønneseth, Eva, Sandberg, Sverre, Martinez, Aurora, Toska, Karen
Formato: Artigo
Lenguaje:Inglês
Publicado: Portland Press Ltd. 2013
Materias:
Original Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3738108/
https://ncbi.nlm.nih.gov/pubmed/23815679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20130045
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares