Lise Bjørkhaug

Lise Bjørkhaug
Høgskulen på Vestlandet | HVL · Faculty of engineering and science

PhD

About

52
Publications
11,765
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Introduction
Lise Bjørkhaug is a Professor at the Department of Safety, Chemistry and Biomedical Laboratory Sciences , Western Norway University of Applied Sciences, Norway. Lise does research in Diabetology, Molecular and Cellular Biology
Additional affiliations
February 2010 - June 2016
University of Bergen
Position
  • Researcher

Publications

Publications (52)
Article
Full-text available
Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause maturity-onset diabetes of the young 3 (MODY3 or HNF1A MODY), a disease characterized by dominant inheritance, age of onset before...
Preprint
Full-text available
Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating expression of numerous target genes. Pathogenic variants in the HNF1A gene cause maturity-onset diabetes of the young 3 (MODY3 or HNF1A MODY), characterized by dominant inheritance, age of onset before 25-35 years of age, and...
Article
Full-text available
Purpose The female menstrual cycle (MC) is characterized by hormonal fluctuations throughout its different phases. However, research regarding its effect on athletic performance in high level athletes is sparse. The aim of this study was to (i) investigate the female MCs effect on strength and power performance in highly trained female team athlete...
Article
Full-text available
Background and aim: Maturity-onset diabetes of the young (MODY) is the result of single gene variants. To date, fourteen different MODY subtypes have been described. Variants in genes coding for glucokinase (GCK, MODY2) and hepatic nuclear factor 1 alpha (HNF1A, MODY3) are most frequently encountered. MODY patients are often misdiagnosed with type...
Article
Full-text available
Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), increase type 2 diabetes risk, or be benign. A correct diagnosis matters as it informs on treatment, progression, and family ris...
Article
Context: While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause Maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As has been suggested by the American College of Medical Genetics (ACMG) guidelines for variant interpretation, functional studies...
Preprint
Full-text available
Background: Exome sequencing in diabetes presents a diagnostic challenge as depending on frequency, functional impact and genomic and environmental contexts, HNF1A variants can cause Maturity-onset Diabetes of the Young (MODY), increase type 2 diabetes risk, or be benign. A correct diagnosis matters as it informs on treatment, progression, and fami...
Article
Full-text available
The transcription factor hepatocyte nuclear factor-1α (HNF-1A) is involved in normal pancreas development and function. Rare variants in the HNF1A gene can cause monogenic diabetes, while common variants confer type 2 diabetes risk. The precise mechanisms for regulation of HNF-1A, including the role and function of post-translational modifications,...
Article
Steroid receptor coactivator 2 (SRC-2) is a nuclear receptor coactivator, important for the regulation of estrogen receptor alpha (ERα)-mediated transcriptional activity in breast cancer cells. However, the transcriptional role of SRC-2 in breast cancer is still ambiguous. Here we aimed to unravel a more precise transcriptional role of SRC-2 and un...
Article
Aims: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. Methods: The HNF1A gene was sequenced in two independently recruited families fr...
Article
The localization of glucokinase in pancreatic beta-cell nuclei is a controversial issue. Although previous reports suggest such a localization, the mechanism for its import has so far not been identified. Using immunofluorescence, subcellular fractionation and mass spectrometry, we here present evidence in support of glucokinase localization in bet...
Article
Full-text available
Autosomal recessive spinocerebellar ataxia-16 is caused by bi-allelic mutations in the STUB1 gene encoding the ubiquitin E3 ligase and dimeric co-chaperone CHIP (C-terminus of Hsc70-Interacting Protein). It has been proposed that the disease mechanism is related to CHIP's impaired E3 ubiquitin ligase properties and/or interaction with its chaperone...
Article
Full-text available
Variants in HNF1A encoding hepatocyte nuclear factor-1A are associated with maturity-onset diabetes of the young (MODY3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified...
Article
Full-text available
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortiu...
Article
Full-text available
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of diabetes characterized by onset of diabetes below 25 years of age, autosomal dominant mode of inheritance and primary defect in insulin secretion. Mutations in the gene (HNF1A) encoding transcription factor Hepatocyte Nuclear Factor 1A (HNF-1A) results in o...
Article
Full-text available
Fasting hormones activate the cAMP/PKA signaling pathway and stimulate expression of hepatic gluconeogenic enzymes including glucose-6-phosphatase (G6Pase). Previously it was shown that steroid receptor coactivator 2 (SRC-2) knock-out mice exhibit fasting hypoglycemia and that SRC-2 coactivates RAR-related orphan receptor alpha (RORα) at the proxim...
Article
Full-text available
Context: Congenital hyperinsulinism of infancy (CHI) represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β-cells causing severe hypoglycaemia. Objective: We studied the distribution of genetic causes of CHI in a Czech population. Methods: Country-wide collection of patients with CHI included...
Article
Full-text available
Background A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is constantly evolving due to new identified disease genes. Recently, reports have linked mutations in genes involved in ubiquitination...
Article
Full-text available
Importance: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. Objectives: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships. De...
Article
Full-text available
Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referred to our laboratory for genetic testing. We also present data on neonatal diabetes, another group of...
Article
Full-text available
Glucokinase is the predominant hexokinase expressed in hepatocytes and pancreatic β-cells, with a pivotal role in regulating glucose-stimulated insulin secretion, illustrated by glucokinase gene mutations causing monogenic diabetes and congenital hyperinsulinemic hypoglycemia. A complex tissue-specific network of mechanisms regulates this enzyme, a...
Article
Full-text available
GCK-MODY, dominantly inherited mild fasting hyperglycemia, has been associated with >600 different mutations in the glucokinase (GK)-encoding gene (GCK). When expressed as recombinant pancreatic proteins, some mutations result in enzymes with normal/near-normal catalytic properties. The molecular mechanism(s) of GCK-MODY due to these mutations has...
Article
Full-text available
CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hy...
Article
Full-text available
CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hy...
Article
Full-text available
Glucokinase (GK) is the central player in glucose-stimulated insulin release from pancreatic β-cells, and catalytic activation by α-D-glucose binding has a key regulatory function. Whereas the mechanism of this activation is well understood, on the basis of crystal structures of human GK, there are no similar structural data on ATP binding to the l...
Data
Fig. S1. Far-UV CD spectra of WT and T228M hGK. Fig. S2. The atom-positional backbone rmsd ofthe MD trajectory structures during the 2-ns MD simulations,relative to the starting structures, and calculated B-factorvalues based on fluctuations of Cα carbons during the 2-ns MD simulations of the four modelled structures. Fig. S3. Surface presentations...
Article
We have established a biological assay to investigate the nature of the non-covalent interaction between two integral type I membrane proteins, FCγRI and γ-chain. FCγRI, the human high affinity receptor for immunoglobulin G (IgG), is expressed on the surface of macrophages and monocytes and mediates a broad range of important immunological function...
Article
alpha-D-Glucose activates glucokinase (EC 2.7.1.1) on its binding to the active site by inducing a global hysteretic conformational change. Using intrinsic tryptophan fluorescence as a probe on the alpha-D-glucose induced conformational changes in the pancreatic isoform 1 of human glucokinase, key residues involved in the process were identified by...
Article
Maturity-onset diabetes of the young, type 2 (MODY2) is caused by mutations in the glucokinase gene (GCK). The aim of our study was to determine the prevalence of GCK mutations in the Norwegian MODY Registry and to delineate the clinical phenotype of identified GCK mutation carriers. We screened 122 probands referred to the MODY Registry for mutati...
Article
Full-text available
Human glucokinase (hGK) is a monomeric enzyme highly regulated in pancreatic β-cells (isoform 1) and hepatocytes (isoforms 2 and 3). Although certain cellular proteins are known to either stimulate or inhibit its activity, little is known about post-translational modifications of this enzyme and their possible regulatory functions. In this study, w...
Article
Full-text available
Glucokinase functions as a glucose sensor in pancreatic beta-cells and regulates hepatic glucose metabolism. A total of 83 probands were referred for a diagnostic screening of mutations in the glucokinase (GCK) gene. We found 11 different mutations (V62A, G72R, L146R, A208T, M210K, Y215X, S263P, E339G, R377C, S453L, and IVS5 + 1G>C) in 14 probands....
Article
Full-text available
Variants in hepatocyte nuclear factor (HNF)-4alpha cause maturity-onset diabetes of the young, type 1 (MODY1) and may also be risk factors for type 2 diabetes. We sequenced the HNF4A gene of 95 MODY3-negative probands from the Norwegian MODY Registry. We found three novel coding variants in exon 8 of HNF4A: G326R, T339I, and W340X. In intron 7, we...
Article
Full-text available
Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in F...
Article
Full-text available
Genetic factors are involved in the development of diabetes. We here evaluate the possibilities for a genetic diagnosis of diabetes. This overview is based on a limited literature search in PubMed as well as our own experience. Sequence variations in a number of genes and genomic regions result in an increased risk for development of type 1 and typ...
Article
Full-text available
Hepatocyte nuclear factor-1alpha (HNF-1alpha) is a homeodomain-containing transcription factor regulating the expression of liver and pancreas-specific genes. Mutations in the HNF-1alpha-encoding gene TCF1 cause maturity-onset diabetes of the young, type 3 (MODY3). These mutations may affect nuclear import or reduce the ability of HNF-1alpha to sti...
Article
Full-text available
Neonatal diabetes can be either permanent or transient. We have recently shown that permanent neonatal diabetes can result from complete deficiency of glucokinase activity. Here we report three new cases of glucokinase-related permanent neonatal diabetes. The probands had intrauterine growth retardation (birth weight <1,900 g) and insulin-treated d...
Article
Full-text available
Mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene cause maturity-onset diabetes of the young (MODY), type 3. To estimate the prevalence of MODY3 in Norwegian diabetic pedigrees, we screened a total of 130 families for HNF-1 alpha mutations; 42 families with clinical MODY, 75 with suspected MODY, and 13 pedigrees with multiplex type 1 di...
Article
Full-text available
Genomet vårt inneholder millioner av små vari-asjoner som trolig har liten betydning, i alle fall med dagens viten. Som kontrast til dette har vi det faktum at sykdom kan oppstå på grunn av bare én ekstra sekvensvariasjon på et «uheldig» sted i et gen. Et eksempel på dette er at mutasjoner i genet GPR54, et G-proteinkoblet reseptorgen, fører til fo...
Article
Full-text available
A. Raimondo, A. J. Chakera, S. K. Thomsen, K. Colclough, A. Barrett, E. De Franco, A. Chatelas, H. Demirbilek, T. Akcay, H. Alawneh, , S. E. Flanagan, M. Van De Bunt, A. T. Hattersley, A. L. Gloyn, S. Ellard, M. A. Abduljabbar, M. Al-Zyoud, S. Aman, L. Bath, P. De, N. Deshpande, E. Durmaz, F. Eickmeier, N. S. Elbarbary, M. Fillion, S. M. Jagadeesh,...
Article
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes characterized by early onset of pancreatic dysfunction. MODY type 3 is caused by mutations in the hepatocyte nuclear factor (HNF)-1alpha. During a screening of Norwegian patients with suspected MODY we identified two novel HNF-1alpha mutations, P112L and Q466X. Th...
Article
Full-text available
X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterised by selective susceptibility to Epstein-Barr virus and frequent association with malignant lymphomas chiefly located in the ileocecal region, liver, kidney and CNS. Taking advantage of a large bacterial clone contig, we obtained a genomic sequence of 197620 bp...
Article
We have established a biological assay to investigate the nature of the non-covalent interaction between two integral type I membrane proteins, Fc gamma RI and gamma-chain. Fc gamma RI, the human high affinity receptor for immunoglobulin G (IgG), is expressed on the surface of macrophages and monocytes and mediates a broad range of important immuno...

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