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...

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Detalles Bibliográficos
Autores principales: Bustad, Helene J., Kallio, Juha P., Vorland, Marta, Fiorentino, Valeria, Sandberg, Sverre, Schmitt, Caroline, Aarsand, Aasne K., Martinez, Aurora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827610/
https://www.ncbi.nlm.nih.gov/pubmed/33445488
http://dx.doi.org/10.3390/ijms22020675

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827610/
https://www.ncbi.nlm.nih.gov/pubmed/33445488
http://dx.doi.org/10.3390/ijms22020675

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