A5066970469- Connective tissue disorders research
- Bone and Dental Protein Studies
- Effects of Radiation Exposure
- Microbial metabolism and enzyme function
- Aldose Reductase and Taurine
- Cholesterol and Lipid Metabolism
- Bioinformatics and Genomic Networks
- Lymphatic System and Diseases
- Urological Disorders and Treatments
- Alcohol Consumption and Health Effects
- Peroxisome Proliferator-Activated Receptors
- RNA modifications and cancer
- Lipid metabolism and disorders
- Barrier Structure and Function Studies
- Genomics and Rare Diseases
- Cell Adhesion Molecules Research
- Glycosylation and Glycoproteins Research
- Advanced MRI Techniques and Applications
- Cardiomyopathy and Myosin Studies
- Carcinogens and Genotoxicity Assessment
- RNA regulation and disease
- X-ray Spectroscopy and Fluorescence Analysis
- Wnt/β-catenin signaling in development and cancer
- Muscle metabolism and nutrition
- Skin and Cellular Biology Research
University of Oulu
2006-2024
Oulu University Hospital
2021-2024
Biocenter Finland
2023
Lysyl hydroxylase 3 (LH3) is a multifunctional enzyme possessing lysyl (LH), hydroxylysyl galactosyltransferase (GT) and galactosylhydroxylysyl glucosyltransferase (GGT) activities in vitro. To investigate the vivo importance of LH3-catalyzed lysine hydroxylation hydroxylysine-linked glycosylations, three different LH3-manipulated mouse lines were generated. Mice with mutation that blocked only LH activity LH3 developed normally, but showed defects structure basement membrane collagen fibril...
Abstract Lysyl hydroxylase 3 (LH3), the multifunctional enzyme associated with collagen biosynthesis that possesses lysyl and glycosyltransferase activities, has been characterized in extracellular space this study. Lysine modifications are known to occur endoplasmic reticulum (ER) prior triple‐helix formation, but study we show LH3 is also present active space. Studies vitro cultured cells indicate LH3, addition being an ER resident, secreted from found both medium on cell surface collagens...
Lysyl hydroxylase 3 (LH3) is a multifunctional enzyme possessing lysyl hydroxylase, collagen galactosyltransferase, and glucosyltransferase (GGT) activities. We report here an important role for LH3 in the organization of extracellular matrix (ECM) cytoskeleton. Deposition ECM was affected heterozygous knock-out mouse embryonic fibroblasts (MEF+/−) skin collected from member Finnish epidermolysis bullosa simplex (EBS) family known to be deficient GGT activity. show deficiency due...
Lysyl hydroxylase 3 (LH3) is a post-translational modification enzyme with lysyl (LH), collagen galactosyltransferase (GT), and glucosyltransferase (GGT) activities. The active sites responsible for LH GT/GGT activities of LH3 are localized separately in the carboxy- amino-terminal parts molecule, respectively. found both intracellularly ER, as well extracellularly serum, extracellular space on cell surfaces, only secreted isoform. In order to determine whether play role secretion, we...
Primary lymphedema (PL), characterized by tissue swelling, fat accumulation and fibrosis, results from defective lymphatic vessels or valves caused mutations in genes involved development, maturation function of the vascular system. Pathogenic variants various have been identified about 30% PL cases. By screening a cohort 755 individuals with PL, we two TIE1 (tyrosine kinase immunoglobulin- epidermal growth factor-like domains 1) missense one truncating variant, all predicted to be...
Cellular energy demands are met by uptake and metabolism of nutrients like glucose. The principal transcriptional regulator for adapting glycolytic flux downstream pathways
Scanning transmission X-ray microscopy (STXM) in the soft range is well-suited to study ultrastructural features of mammalian tissues. Especially at carbon 1s edge, imaging contrast varies drastically across edge due rapid changes absorption cross-section functional groups present tissue samples enabling label-free spectromicroscopic studies. We STXM mouse kidney and liver especially concentrate on abnormalities genetically modified Slc17a5 mice. a promising technique storage diseases...
Abstract Fibrosis, neurodegeneration and cerebral angiomatosis (FINCA) is a childhood-onset multi-organ neurodevelopmental disorder associated with manifestations recurrent infections. The disease caused by variants in NHLRC2 initiating cascade of unknown pathological events. Previously, we have demonstrated that despite the significant decrease at molecular level, compound heterozygosity knock out p.Asp148Tyr alleles does not lead to severe phenotype mice. Here, analysed behavioural...