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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Dades bibliogràfiques
Publicat a:Int J Mol Sci
Autors principals: Bustad, Helene J., Kallio, Juha P., Vorland, Marta, Fiorentino, Valeria, Sandberg, Sverre, Schmitt, Caroline, Aarsand, Aasne K., Martinez, Aurora
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Review
Accés en línia: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
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