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...

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Detalles Bibliográficos
Autores principales: Bustad, Helene J., Vorland, Marta, Rønneseth, Eva, Sandberg, Sverre, Martinez, Aurora, Toska, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738108/
https://www.ncbi.nlm.nih.gov/pubmed/23815679
http://dx.doi.org/10.1042/BSR20130045

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