Blar i Department of Biomedicine på forfatter "Toska, Karen"
-
Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism
Bustad, Helene J.; Kallio, Juha Pekka; Laitaoja, Mikko; Toska, Karen; Kursula, Inari; Martinez, Aurora; Jänis, Janne (Journal article; Peer reviewed, 2021)Porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis, catalyzes the sequential coupling of four porphobilinogen (PBG) molecules into a heme precursor. Mutations in PBGD are associated with acute ... -
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria
Bustad, Helene J.; Vorland, Marta; Rønneseth, Eva; Sandberg, Sverre; Martinez, Aurora; Toska, Karen (Peer reviewed; Journal article, 2013-08)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 ... -
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria
Bustad, Helene J.; Toska, Karen; Schmitt, Caroline; Vorland, Marta; Skjærven, Lars; Kallio, Juha Pekka; Simonin, Sylvie; Lettéron, Philippe; Underhaug, Jarl; Sandberg, Sverre; Martinez, Aurora (Peer reviewed; Journal article, 2019-12-03)Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors ...