Kristian Tveten
A5036117078- Genetics and Neurodevelopmental Disorders
- Lipoproteins and Cardiovascular Health
- RNA modifications and cancer
- Signaling Pathways in Disease
- RNA Research and Splicing
- Cancer-related gene regulation
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Cellular transport and secretion
- Cardiac electrophysiology and arrhythmias
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Neurological diseases and metabolism
- Epigenetics and DNA Methylation
- Protease and Inhibitor Mechanisms
- Amyotrophic Lateral Sclerosis Research
- Genetic and Kidney Cyst Diseases
- interferon and immune responses
- Protein Kinase Regulation and GTPase Signaling
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Pancreatic function and diabetes
- Hereditary Neurological Disorders
- Cell Adhesion Molecules Research
Telemark Hospital
2016-2025
Oslo University Hospital
2009-2014
University of Oslo
2012
Med-Storm Innovation (Norway)
2007
Abstract Aims Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1–3) that encode identical calmodulin proteins. We established International Calmodulinopathy Registry (ICalmR) to understand natural history, clinical features, response therapy patients with a CALM-mediated syndrome. Methods results A dedicated Case Report File was created collect demographic, clinical, genetic...
Objectives This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet–Biedl syndrome (BBS) the associations between physical functioning, health status outcomes distress. Design Cross-sectional study. Setting Outpatient hospital visits. Participants 30 BBS were included (50% women, aged 20–69 years) assessed Needs Provision Complexity Scale, Short Physical Performance Battery, EuroQoL five dimensions severity levels (EQ-5D-5L) Hospital Anxiety...
The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic frequently associated with rare de novo nonsynonymous coding variants in neuronally expressed genes. Here, we describe eight probands DEE phenotype comprising intellectual disability, epilepsy, hypotonia. Exome trio analysis showed TRPM3, encoding brain-expressed transient receptor potential channel, each. Seven were identically heterozygous for recurrent substitution, p.(Val837Met), TRPM3's S4–S5...
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, facial dysmorphism. Here, we present a cohort individuals with clinical features distinct from FLHS truncating (mostly de novo) SRCAP either proximal (n = 28) or distal 5) to locus. Detailed characterization identified shared characteristics: developmental delay without...
Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving pre-mRNA at poly(A) sites that can lie within 3′ untranslated region (3′UTR), introns, or exons. Most studies focus on APA 3′UTR; however, here, we show CPSF6 insufficiency alters protein levels and causes a developmental syndrome deregulating throughout transcript. In neonatal humans zebrafish larvae, shifts site usage between 3′UTR internal in pathway-specific manner. Genes associated with...
Rare sequence variants in at least five genes are known to cause monogenic obesity. In this study we aimed investigate the prevalence of, and characterize, rare coding splice site LEP, LEPR, MC4R, PCSK1 POMC patients with morbid obesity normal weight controls.Targeted next-generation sequencing of all exons was performed 485 327 population-based controls from Norway.In total 151 were detected. Twenty-eight (18.5%) these rare, or (3.3%) novel. All individuals, except one control, heterozygous...
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the epidermal growth factor homology domain repeat A of low-density lipoprotein receptor (LDLR) at cell surface and disrupts recycling internalized LDLR. As a consequence, LDLR is rerouted lysosomes for degradation. Although PCSK9 may bind an lacking ligand-binding domain, least three repeats are required reroute lysosomes. In this study, we have studied binding with or without increasingly acidic conditions in order mimic milieu...
Familial hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding low‐density lipoprotein receptor. To date, more than 900 different have been described. Transport‐defective (class 2) causing partial or complete retention of receptor endoplasmic reticulum are predominant class mutations. In a cell culture system (Chinese hamster ovary cells), we show that chemical chaperones able to mediate rescue transport‐defective mutant (G544V), and ability obtain...
PCSK9 (proprotein convertase subtilisin/kexin type 9) binds to the LDLR (low-density lipoprotein receptor) at cell surface and disrupts recycling of LDLR. However, also interacts with in ER (endoplasmic reticulum). In present study we have investigated role for transport from membrane. A truncated consisting ectodomain (ED-LDLR) was used these studies avoid PCSK9-mediated degradation The amount secreted ED-LDLR as a measure transported ER. From co-transfection experiments various plasmids,...
More than 1700 mutations in the low density lipoprotein receptor (LDLR) gene have been found to cause familial hypercholesterolemia (FH). These are commonly divided into five classes based upon their effects on structure and function of LDLR. However, little is known about mechanism by which transmembrane domain LDLR FH. We studied how mutation G805R affects Based Western blot analyses transfected HepG2 cells, reduced amounts 120 kDa precursor endoplasmic reticulum. This led mature 160 at...
Abstract Background We aimed to define the clinical and variant spectrum provide novel molecular insights into DHX30 -associated neurodevelopmental disorder. Methods Clinical genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, our network of collaborators. investigated impact missense variants with respect ATPase helicase activity, stress granule (SG) formation, global translation, their effect on embryonic development in zebrafish....
In Norway, 89% of patients with Amyotrophic lateral sclerosis (ALS) lacks a genetic diagnose. ALS genes and that cause other neuromuscular or neurodegenerative disorders extensively overlap. This population-based study examined whether have family history neurological explored the occurrence rare variants associated disorders.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the LDL receptor (LDLR) at cell surface and reroutes internalized LDLR intracellular degradation. In this study, we have shown that PCSK9-mediated degradation of full-length 160 kDa generates a 17 C-terminal fragment. This fragment was not generated from mutant LDLRs resistant or when prevented by chemicals such as ammonium chloride cysteine cathepsin inhibitor E64d. The observation only detected cells were cultured in presence...
Abstract Background Bardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, metabolic characteristics relevant adults with BBS as well prevalence of genetic variants. Methods A cross-sectional study 30 (15 males, 15 females, mean age 39.8 ± 13.6 years) was recruited from single centre for disorders in Norway....
<b><i>Background:</i></b> Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40–70% of familial ALS patients and approximately 5% sporadic patients. Norway, the contribution to has not yet studied. light potential development personalized medicine, knowledge causes population becoming increasingly important. The present study provides clinical data on...