Blar i Department of Biomedicine på forfatter "Aarsand, Aasne Karine"
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Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
Bustad, Helene J.; Kallio, Juha Pekka; Vorland, Marta; Fiorentino, Valeria; Sandberg, Sverre; Schmitt, Caroline; Aarsand, Aasne Karine; Martinez, Aurora (Journal article; Peer reviewed, 2021)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 ... -
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
Christie, Marthe S.; Laitaoja, Mikko; Aarsand, Aasne Karine; Kallio, Juha Pekka; Bustad, Helene J. (Journal article; Peer reviewed, 2022)Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1-hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate ...