A5060326154- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Click Chemistry and Applications
- Heat shock proteins research
- Metabolomics and Mass Spectrometry Studies
- RNA Research and Splicing
- Monoclonal and Polyclonal Antibodies Research
- Epigenetics and DNA Methylation
- Peroxisome Proliferator-Activated Receptors
- Bacterial Infections and Vaccines
- Tryptophan and brain disorders
- Genetics and Neurodevelopmental Disorders
- Probiotics and Fermented Foods
- Biochemical and Molecular Research
- Autism Spectrum Disorder Research
- ATP Synthase and ATPases Research
- Cardiovascular Effects of Exercise
- Chemical Synthesis and Analysis
- Synthesis and Catalytic Reactions
- Genetic Neurodegenerative Diseases
- Peptidase Inhibition and Analysis
- Sulfur Compounds in Biology
- Ion Transport and Channel Regulation
- Neonatal Respiratory Health Research
- Circular RNAs in diseases
Aarhus University Hospital
2016-2025
Aarhus University
2016-2025
Aalborg University
2014
John Radcliffe Hospital
2014
University of Oxford
2014
Odense University Hospital
2014
Institute for Molecular Medicine
2012
University of Gothenburg
2007
Lund University
2000-2004
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and neuromuscular phenotype. Despite recent advances in understanding the genetic basis MADD, number cases remain unexplained. Here, we report clinically relevant variants FLAD1, which encodes FAD synthase (FADS), as cause MADD dysfunction nine individuals recruited from centers six countries. In most individuals, identified biallelic frameshift...
Genome-wide association studies have identified a link between genetic variation at the human chromosomal locus 1p13.3 and coronary artery disease. The gene encoding sortilin (SORT1) has been implicated as causative within locus, regulates hepatic lipoprotein metabolism. Here we demonstrated that also directly affects atherogenesis, independent of its regulatory role in In mouse model atherosclerosis, deletion Sort1 did not alter plasma cholesterol levels, but reduced development both early...
Susceptibility to stress plays a crucial role in the development of psychiatric disorders such as unipolar depression and post-traumatic disorder. In present study chronic mild rat model was used reveal stress-susceptible stress-resilient rats. Large-scale proteomics map hippocampal protein alterations different states. Membrane proteins were successfully captured by two-phase separation peptide based proteomics. Using iTRAQ labeling coupled with mass spectrometry, more than 2000 quantified...
Aberrant expression of long non-coding RNAs (lncRNAs) has been regarded as a critical component in bladder cancer (BC) and lncRNAs have associated with BC development progression although their overall functional significance is still unclear. The aim our study was to identify novel role carcinogenesis. RNA-sequencing used aberrantly expressed 8 normal 72 samples. We identified 89 that were significantly dys-regulated BC. Five lncRNAs; LINC00958, LINC01296, LINC00355, LNC-CMC1-1 LNC-ALX1-2...
Dysregulated intracellular pH is emerging as a hallmark of cancer. In spite their acidic environment and increased acid production, cancer cells maintain alkaline that promotes progression by inhibiting apoptosis increasing glycolysis, cell growth, migration, invasion. Here we identify signal transducer activator transcription-3 (STAT3) key factor in the preservation cytosol. STAT3 associates with vacuolar H+-ATPase coiled-coil domain-dependent manner increases its activity living vitro....
Abstract The accumulation of senescent cells is recognised as a driver tissue and organismal ageing. One the gold‐standard hallmarks cell an increase in lysosomal content, measured by senescence‐associated β‐galactosidase (Senβ‐Gal) activity. lysosome plays central role integrating mitogenic stress cues to control metabolism, which known be dysregulated senescence. Despite this, little about cause consequence biogenesis We find here that lysosomes are dysfunctional; they have higher pH,...
Abstract Background Calcitonin gene-related peptide (CGRP) plays an important role in migraine pathophysiology, and post-traumatic headache (PTH) frequently presents with migraine-like features. Despite several clinical similarities, few studies have explored CGRP PTH concussion. This study investigates serum levels patients persistent post-concussion symptoms (PPCS), including PTH. Methods cohort was based on samples from individuals aged 18–30 years PPCS who participated a previously...
Bioactive proanthocyanidins have been reported to several beneficial effects on health in relation metabolic syndrome, type 2 diabetes, and cardiovascular disease. We studied the effect of grape seed proanthocyanidin extract (GSPE) rats fed a high fat diet (HFD). This is first study flavonoids liver proteome suffering from syndrome. Three groups were over period 13 weeks either chow (control), an HFD, or supplemented for last 10 days with GSPE (HFD + GSPE). The was fractionated, using Triton...
Riboflavin-responsive forms of multiple acyl-CoA dehydrogenation deficiency (RR-MADD) have been known for years, but with presumed defects in the formation flavin adenine dinucleotide (FAD) co-factor rather than genetic electron transfer flavoprotein (ETF) or flavoprotein-ubiquinone oxidoreductase (ETF-QO). It was only recently established that a number RR-MADD patients carry ETF-QO and well-documented clinical efficacy riboflavin treatment may be based on chaperone effect can compensate...
To describe neurophysiological abnormalities in Long COVID and correlate quantitative electromyography (qEMG) single fiber EMG (sfEMG) results to clinical scores histopathology. 84 patients with non-improving musculoskeletal symptoms were examined qEMG sfEMG. Muscle biopsies taken a subgroup. Mean motor unit potential (MUP) duration was decreased ≥ 1 muscles 52 % of the patients. jitter increased 17 tibialis anterior 25 extensor digitorum communis. Increased seen or without myopathic qEMG....
We have previously reported the association of a mutation (c.292G > A/p.V98I) in human HSPD1 gene that encodes mitochondrial Hsp60 chaperonin with dominantly inherited form hereditary spastic paraplegia. Here, we show purified Hsp60-(p.V98I) displays decreased ATPase activity and exhibits strongly reduced capacity to promote folding denatured malate dehydrogenase vitro. To test its vivo functions, engineered bacterial model system lacks endogenous genes harbors two plasmids carrying...
Even though the deleterious effects of increased reactive oxygen species (ROS) levels have been implicated in a variety neurodegenerative disorders, triggering events that lead to ROS and successive damages are still ill-defined. Mitochondria key organelles controlling balance, being their main source also counteracting them by action scavenging system. Mitochondria, moreover, control presence ROS-damaged proteins protein quality (PQC) One its components is mitochondrial chaperone Hsp60...
Circular RNAs are important for many cellular processes but their mechanisms of action remain poorly understood. Here, we map circRNA inventories mouse embryonic stem cells, neuronal progenitor cells and differentiated neurons identify hundreds highly expressed circRNAs. By screening several candidate circRNAs a potential function in differentiation, find that circZNF827 represses expression key markers, suggesting this molecule negatively regulates differentiation. Among 760 tested genes...
ABSTRACT Long COVID represents a significant global health challenge with an unclear etiology. Alongside accumulating evidence of mitochondrial dysfunction in patients acute SARS‐CoV‐2 infection, symptomatic overlap exists between long and disorders. However, the genetic underpinnings have not been previously explored. We employed whole genome sequencing to analyze 13 severe identify defects related function. performed extracellular bioenergetics flux analysis on peripheral blood mononuclear...
Abstract Background The axolotl is a prominent model organism of heart regeneration due to its ability anatomically and functionally repair the after an injury that mimics human myocardial infarction. In humans, such leads permanent scarring. Cardiac has been linked metabolism oxygenation state, but so far, these factors remain be detailed in model. this descriptive study, we have investigated metabolic changes occurred during cardiac axolotl. Results We describe systemic local involving...
Disturbances in microvascular flow dynamics are hypothesized to precede the symptomatic phase of Alzheimer's disease (AD). However, evidence presymptomatic AD remains elusive, underscoring need for therapies targeting these early vascular changes. We employed a multimodal approach, combining vivo optical imaging, molecular techniques, and ex magnetic resonance investigate capillary dysfunction C57BL/6-Tg(Thy1-APPSwDutIowa)BWevn/Mmjax (Tg-SwDI) mice without memory impairment. also assessed...
Celastrol, a natural substance isolated from plant extracts used in traditional Chinese medicine, has been extensively investigated as possible drug for treatment of cancer, autoimmune diseases, and protein misfolding disorders. Although studies focusing on celastrol's effects specific cellular pathways have revealed considerable number targets diverse array vitro models there is an essential need investigations that can provide global view its effects. To assess celastrol to identify target...