Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem biosynthesis pathway. In susceptible HMBS mutation carriers, triggering factors...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Int J Mol Sci
Main Authors: Bustad, Helene J., Kallio, Juha P., Vorland, Marta, Fiorentino, Valeria, Sandberg, Sverre, Schmitt, Caroline, Aarsand, Aasne K., Martinez, Aurora
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7827610/
https://ncbi.nlm.nih.gov/pubmed/33445488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22020675
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker