Helene J. Bustad
Bergen, Norway
Last Updated: 09/26/2026
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Found 12 publications
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
Journal: FEBS open bio
Published: April 25, 2022
High-affinity anti-Arc nanobodies provide tools for structural and functional studies.
Journal: PloS one
Published: February 11, 2022
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Journal: International journal of molecular sciences
Published: April 20, 2021
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Journal: International journal of molecular sciences
Published: November 21, 2020
Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.
Journal: iScience
Published: September 11, 2020
Arc self-association and formation of virus-like capsids are mediated by an N-terminal helical coil motif.
Journal: The FEBS journal
Published: September 03, 2020
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: January 06, 2019
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Journal: Bioscience reports
Published: January 18, 2017
Arc is a flexible modular protein capable of reversible self-oligomerization.
Journal: The Biochemical journal
Published: March 10, 2015
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Journal: Bioscience reports
Published: July 03, 2013
Showing 1-12 of 12
Last Updated: 09/26/2026