Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria

por Bustad, Helene J., Vorland, Marta, Rønneseth, Eva, Sandberg, Sverre, Martinez, Aurora, Toska, Karen
Publicado 2013

Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function

por Christie, Marthe S., Laitaoja, Mikko, Aarsand, Aasne K., Kallio, Juha P., Bustad, Helene J.
Publicado 2022

Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism

por Bustad, Helene J., Kallio, Juha P., Laitaoja, Mikko, Toska, Karen, Kursula, Inari, Martinez, Aurora, Jänis, Janne
Publicado 2021

Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators

por Bustad, Helene J., Kallio, Juha P., Vorland, Marta, Fiorentino, Valeria, Sandberg, Sverre, Schmitt, Caroline, Aarsand, Aasne K., Martinez, Aurora
Publicado 2021

High-affinity anti-Arc nanobodies provide tools for structural and functional studies

por Markússon, Sigurbjörn, Hallin, Erik I., Bustad, Helene J., Raasakka, Arne, Xu, Ju, Muruganandam, Gopinath, Loris, Remy, Martinez, Aurora, Bramham, Clive R., Kursula, Petri
Publicado 2022

The Peripheral Binding of 14-3-3γ to Membranes Involves Isoform-Specific Histidine Residues

por Bustad, Helene J., Skjaerven, Lars, Ying, Ming, Halskau, Øyvind, Baumann, Anne, Rodriguez-Larrea, David, Costas, Miguel, Underhaug, Jarl, Sanchez-Ruiz, Jose M., Martinez, Aurora
Publicado 2012

A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria

por Bustad, Helene J., Toska, Karen, Schmitt, Caroline, Vorland, Marta, Skjærven, Lars, Kallio, Juha P., Simonin, Sylvie, Letteron, Philippe, Underhaug, Jarl, Sandberg, Sverre, Martinez, Aurora
Publicado 2020

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

por Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J., Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Publicado 2017

Arc is a flexible modular protein capable of reversible self-oligomerization

por Myrum, Craig, Baumann, Anne, Bustad, Helene J., Flydal, Marte Innselset, Mariaule, Vincent, Alvira, Sara, Cuéllar, Jorge, Haavik, Jan, Soulé, Jonathan, Valpuesta, José Maria, Márquez, José Antonio, Martinez, Aurora, Bramham, Clive R.
Publicado 2015

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

por Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Publicado 2021