A5103238555- Lysosomal Storage Disorders Research
- Hematopoietic Stem Cell Transplantation
- Virus-based gene therapy research
- RNA modifications and cancer
- Cancer-related gene regulation
- CRISPR and Genetic Engineering
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- Obesity, Physical Activity, Diet
- Transgenic Plants and Applications
- Immune Cell Function and Interaction
- TGF-β signaling in diseases
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Mesenchymal stem cell research
- Spider Taxonomy and Behavior Studies
- Ion Transport and Channel Regulation
- Pancreatic function and diabetes
- Zebrafish Biomedical Research Applications
- Neurogenesis and neuroplasticity mechanisms
- Advanced battery technologies research
- Vitamin D Research Studies
- Aldose Reductase and Taurine
- Coenzyme Q10 studies and effects
- Plant tissue culture and regeneration
University of Copenhagen
2022-2023
Lund University
2010-2022
Copenhagen University Hospital
2016-2019
Holbæk Sygehus
2016-2019
Gene Therapy Laboratory
2015
Justus-Liebig-Universität Gießen
1998
Vienna Biocenter
1995
Technical University of Denmark
1994
The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) GBA2, located in outside the lysosome, respectively. Here we demonstrate that through transglucosylation both GBA GBA2 are able to catalyze vitro transfer of glucosyl-moieties from GlcCer cholesterol, vice versa. Furthermore, natural occurrence 1-O-cholesteryl-β-D-glucopyranoside (GlcChol) mouse tissues human plasma demonstrated using...
Gaucher disease is caused by an inherited deficiency of the enzyme glucosylceramidase. Due to lack a fully functional enzyme, there progressive build-up lipid component glucosylceramide. Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopenias, and bone patients. Gene therapy represents future therapeutic option for patients unresponsive replacement lacking suitable marrow donor. By proof-of-principle experiments, we have previously demonstrated reversal symptoms...
Abstract Background: Sufficient serum concentrations of vitamin D are required to maintain bone health during growth. The aims this study were determine whether deficiency is more prevalent among children and adolescents with obesity compared their normal weight peers identify clinical biochemical variables associated deficiency. Methods: One thousand four hundred eighty-four overweight/obesity 2143 population-based controls recruited from the Danish Childhood Obesity Biobank. Anthropometric...
Cyclins are key regulators of the cell cycle in all eukaryotes. We have previously isolated two B-type cyclin genes, cycMs1 and cycMs2, from alfalfa that primarily expressed during G2-to-M phase transition most likely mitotic genes. Here, we report isolation a novel gene, termed cycMs3 (for Medicago sativa), by selecting for mating type alpha-pheromone-induced arrest suppression yeast. The central region predicted amino acid sequence gene is similar to box yeast mammalian A- cyclins. In situ...
Myalgia and new-onset of type 2 diabetes have been associated with statin treatment, which both could be linked to reduced coenzyme Q10 (CoQ10) in skeletal muscle impaired mitochondrial function. Supplementation CoQ10 focusing on levels function has not investigated patients treated statins. To investigate whether concomitant administration statins increases the improves function, if changes correlate intensity myalgia. 37 men women simvastatin therapy without myalgia were randomized receive...
To ensure a continuous high standard of police units, it is critical to recruit people who perform well in stressful situations. Today, this selection process includes performing large series tests, which still may not objectively reveal person's capacity handle life-threatening situation when subjected levels stress. obtain more systematic and objective data, 12 officers were exposed six scenarios with varying threat while their heart rate pupil size monitored. The filmed expert evaluators...
Thyroid abnormalities are common in obese children. The aim of the present study was to examine prevalence subclinical hypothyroidism (SH) and determine how circulating thyroid hormone concentrations correlate with anthropometrics Danish lean children adolescents.In this cross-sectional study, we included 3006 adolescents, aged 6-18 years, from Registry Childhood Obesity Biobank. overweight/obese group (n=1796) consisted participants a body mass index (BMI) standard deviation score (SDS)...
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure disorder in which pure red blood cell aplasia associated with physical malformations and a predisposition to cancer. Twentyfive percent of patients DBA have mutations gene encoding ribosomal protein S19 (RPS19). Our previous proof-of-concept studies demonstrated that phenotype could be successfully treated using lentiviral vectors Rps19-deficient mice. In our present study, we developed clinically applicable single gene,...
Objective The body mass index (BMI) standard deviation score (SDS) may not adequately reflect changes in fat during childhood obesity treatment. This study aimed to investigate associations between BMI SDS, composition, and fasting plasma lipid concentrations at baseline Methods 876 children adolescents (498 girls) with overweight/obesity, median age 11.2 years (range 1.6–21.7), SDS 2.8 1.3–5.7) were enrolled a multidisciplinary outpatient treatment program followed for of 1.8 0.4–7.4)....
Thyroid-stimulating hormone (TSH) and thyroid hormones influence the functions of many organ systems, as well child development growth. Several studies have reported an association between ethnicity hormones. This study aims to explore pediatric serum concentrations TSH, free triiodothyronine (fT3), thyroxine (fT4) their relation age sex subsequently present reference intervals from healthy Danish/North-European white children. A population-based cohort in Denmark 2411 (1435 girls) school...
Gaucher disease type 1 (GD1) is an inherited lysosomal disorder with multisystemic effects in patients. Hallmark symptoms include hepatosplenomegaly, cytopenias, and bone varying degrees of severity. Mutations a single gene, glucosidase beta acid (GBA1), are the underlying cause for disorder, resulting insufficient activity enzyme glucocerebrosidase, which turn leads to progressive accumulation lipid component glucocerebroside. In this study, we treat mice signs consistent GD1, hematopoietic...
Background Hypothyroidism is associated with obesity, and thyroid hormones are involved in the regulation of body composition, including fat mass. Genome-wide association studies (GWAS) adults have identified 19 6 loci plasma concentrations stimulating hormone (TSH) free thyroxine (fT4), respectively. Objective This study aimed to identify characterize genetic variants circulating TSH fT4 Danish children adolescents examine whether these associate obesity. Methods analyses imputed genotype...
Objective The aim of this study was to investigate the prevalence overweight/obesity among parents children entering childhood obesity treatment and evaluate changes in parents’ weight statuses during their child’s treatment. Methods included 1,125 adolescents aged 3–22 years, who were enrolled a multidisciplinary program. At baseline, height obtained by self-reported information parental body mass index (BMI) calculated. Weight measured clinic BMI standard deviation scores Furthermore,...
Life-long production of blood from hematopoietic stem cells (HSCs) is a process strict modulation. Intrinsic and extrinsic signals govern fate options like self-renewal - cardinal feature HSCs. Bone morphogenetic proteins (BMP) have an established role in embryonic hematopoiesis, but less known about its functions adulthood. Previously, SMAD-mediated BMP signaling has been proven dispensable for However, the Type II receptor (BMPR-II) highly expressed HSCs, leaving possibility that BMPs...
The role of calcitriol in stimulating intestinal active Ca 2+ absorption during postnatal life was studied newborn, suckling, and weaned control (Con) piglets suffering from inherited deficiency (Def piglets). In addition, a group Def treated with vitamin D 3 (Def-D piglets), which normalized plasma levels. Regardless age, duodenal calbindin-D 9k concentrations ranged between 1,839 2,846 μg/g mucosa Con piglets, 821 1,219 2,960 3,692 Def-D animals. animals, as calculated vitro 45 flux rate...
Transporting pregnant cattle that have passed 90% or more of the expected gestation period (G90 threshold) is prohibited within European Union. Therefore, there a need to determine whether this threshold has been exceeded in late-gestation cows sent slaughter. The aim study was evaluate fetal parameters' reliability for use forensic age assessment late-term Holstein fetuses.Analysis length 2734 Holsteins calved with single liveborn fetus revealed median 278 days 99% parturitions occurring...
Pigment epithelium derived factor (PEDF), a ubiquitously expressed 50 kDa secreted glycoprotein, was recently discovered to regulate self-renewal of neural stem cells and have supportive effect on human embryonic cell growth. Here, we analyzed expression PEDF in the murine hematopoietic (HSC) compartments found that is highly primary long-term HSCs. Therefore, characterized system knockout mouse model for using this surprisingly dispensable HSC regulation. mice exhibit normal hematopoiesis...