Blar i Bergen Open Research Archive på forfatter "Kallio, Juha Pekka"
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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 ... -
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 ... -
Genetic variation in metronidazole metabolism and oxidative stress pathways in clinical giardia lamblia assemblage A and B isolates
Saghaug, Christina Skår; Klotz, Christian; Kallio, Juha Pekka; Brattbakk, Hans-Richard; Stokowy, Tomasz; Aebischer, Toni; Kursula, Inari; Langeland, Nina; Hanevik, Kurt (Peer reviewed; Journal article, 2019-05-10)Purpose: Treatment-refractory Giardia cases have increased rapidly within the last decade. No markers of resistance nor a standardized susceptibility test have been established yet, but several enzymes and their pathways ... -
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 ... -
Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains
Myllykoski, Matti; Sutinen, Aleksi; Koski, M. Kristian; Kallio, Juha Pekka; Raasakka, Arne; Myllyharju, Johanna; Wierenga, Rik K.; Koivunen, Peppi (Journal article; Peer reviewed, 2021)Prolyl 4-hydroxylases (P4Hs) catalyze post-translational hydroxylation of peptidyl proline residues. In addition to collagen P4Hs and hypoxia-inducible factor P4Hs, a third P4H—the poorly characterized endoplasmic ...