Ingvild Aukrust's picture

Ingvild Aukrust

  • E-mailIngvild.Aukrust@uib.no
  • Phone+47 988 36 907
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Show author(s) 2021. Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. International Journal of Molecular Sciences.
  • Show author(s) 2020. Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. American Journal of Human Genetics. 670-682.
  • Show author(s) 2020. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine. 1215-1226.
  • Show author(s) 2020. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. The Journal of Inherited Metabolic Disease (JIMD). 1-13.
  • Show author(s) 2020. Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. Journal of Clinical Endocrinology and Metabolism. e1377-e1386.
  • Show author(s) 2020. Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica. 1-14.
  • Show author(s) 2019. Dominant ARL3-related retinitis pigmentosa. Ophthalmic Genetics. 124-128.
  • Show author(s) 2018. The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports.
  • Show author(s) 2018. NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report. BMC Medical Genetics. 1-9.
  • Show author(s) 2018. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European Journal of Human Genetics. 378-383.
  • Show author(s) 2018. A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. Cold Spring Harbor Molecular Case Studies.
  • Show author(s) 2017. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
  • Show author(s) 2017. Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes. FEBS Open Bio. 160-173.
  • Show author(s) 2017. Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. European Journal of Human Genetics. 1040-1048.
  • Show author(s) 2017. Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. Molecular and Cellular Endocrinology. 146-157.
  • Show author(s) 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 1-12.
  • Show author(s) 2017. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. 64-74.
  • Show author(s) 2017. Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
  • Show author(s) 2016. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica. 240-246.
  • Show author(s) 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 285-291.
  • Show author(s) 2015. High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. E1540-E1549.
  • Show author(s) 2014. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases.
  • Show author(s) 2014. GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 55-65.
  • Show author(s) 2014. Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. Journal of the American Medical Association (JAMA). 2305-2314.
  • Show author(s) 2013. SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 5951-5962.
  • Show author(s) 2012. GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1705-1715.
  • Show author(s) 2011. Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 2372-2386.
  • Show author(s) 2007. The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV. Journal of Molecular Biology (JMB). 1367-1378.
  • Show author(s) 2006. Engineering, biophysical characterisation and binding properties of a soluble mutant form of annexin A2 domain IV that adopts a partially folded conformation. Journal of Molecular Biology (JMB). 469-481.
  • Show author(s) 2006. Annexin A2 recognises a specific region in the 3 '-UTR of its cognate messenger RNA. BBA - Molecular Cell Research. 1325-1334.
  • Show author(s) 2005. Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction. FEBS Letters. 203-206.
Academic lecture
  • Show author(s) 2019. Functional characterization of diabetes gene variants is important for precision medicine .
Short communication
  • Show author(s) 2020. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Journal of Medical Genetics. 1-5.
Thesis at a second degree level
  • Show author(s) 2002. Studies on the binding of heparin, anxA2 mRNA and F-actin to heterotetrameric annexin A2 (anxA2^2 p11^2) and its recombinant forms. VIII, 150 bl.
Doctoral dissertation
  • Show author(s) 2019. Precision medicine in MODYdiabetes: Unraveling the disease causality of gene variants and new regulatory mechanisms .
  • Show author(s) 2007. Annexin A2 as an mRNA-binding protein.
  • Show author(s) 2020. Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.
  • Show author(s) 2020. Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.
  • Show author(s) 2019. Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics.
  • Show author(s) 2019. Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration.
  • Show author(s) 2018. The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1.
  • Show author(s) 2018. Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics.
  • Show author(s) 2007. The Effect of the Binding of Annexin A2 to the Untranslated Regions of c-myc mRNA on the in vitro Translation of Reporter Protein.
  • Show author(s) 2006. Engineering of mRNA chimeras to study the role of Annexin A2 in c-myc mRNA translation.
  • Show author(s) 2003. Ubiquitin conjugates of annexin 2 are enriched in cytoskeleton-associated messenger ribonucleoprotein complexes.

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