Blar i Bergen Open Research Archive på forfatter "Vorland, Marta"
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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 ... -
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 ... -
Hfe genotype, ferritin levels and transferrin saturation in patients with suspected hereditary hemochromatosis
Sandnes, Miriam; Vorland, Marta; Ulvik, Rune J.; Reikvam, Håkon (Journal article; Peer reviewed, 2021)HFE hemochromatosis is characterized by increased iron absorption and iron overload due to variants of the iron-regulating HFE gene. Overt disease is mainly associated with homozygosity for the C282Y variant, although the ... -
Hyperferritinemia—a clinical overview
Sandnes, Miriam; Ulvik, Rune Johan; Vorland, Marta; Reikvam, Håkon (Journal article; Peer reviewed, 2021)Ferritin is one of the most frequently requested laboratory tests in primary and secondary care, and levels often deviate from reference ranges. Serving as an indirect marker for total body iron stores, low ferritin is ... -
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 ... -
Phospholipase D in human blood platelets
Vorland, Marta (Doctoral thesis, 2008-05-30)We have studied phospholipase D (PLD) in human blood platelets. This enzyme hydrolyzes phosphatidylcholine to phosphatidic acid (PA) and choline, where PA is considered to be the main effector of PLDs function in cells. ...