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Refsum disease is an inborn error of metabolism that is characterized by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid. After clinical suspicion of this disorder, including progressive retinitis pigmentosa and polyneuropathy, Refsum disease is biochemically diagn...
ORGANISM(S): Homo sapiens (Human) 
2020-03-20 | PXD015518 | Pride
Multiple sclerosis (MS) is chronic disease of the central nervous system characterized by demyelinated lesions in both grey and white matter. While white matter lesions are typically associated with inflammatory demyelination, grey matter lesions (GML) often indicate ongoing neurodegenerative proces...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2026-03-23 | PXD066920 | Pride
Background: Glycogen Storage Disease (GSD) Type Ia and Ib are rare metabolic diseases caused by gene variants in G6PC and SLC37A4 respectively. Patients often suffer from multiple metabolic abnormalities and severe long-term complications. Methods: In this study, we employed comprehensive untargete...
ORGANISM(S): Homo sapiens (Human) 
2026-03-06 | PXD066805 | Pride
Peroxisomes are ubiquitous cell organelles involved in various metabolic pathways. In order to properly function, several cofactors, substrates and products of peroxisomal enzymes need to pass the organellar membrane. So far only a few transporter proteins have been identified. We analysed peroxisom...
ORGANISM(S): Hansenula polymorpha vector pAM619 
2024-05-10 | PXD050324 | Pride
Metabolic reprogramming is a hallmark of the immune cells in response to inflammatory stimuli. This metabolic process involves a switch from oxidative phosphorylation (OXPHOS)to glycolysis, or alterations in other metabolic pathways. However, most of the experimental findings have been acquired in m...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2023-09-02 | PXD043836 | Pride
Abstract: Chronic obstructive pulmonary disease (COPD) is a progressive lung disease for which there is no cure. Accumulating research results suggest a role for extracellular vesicles (EVs) in the pathogenesis of COPD. This study aimed to uncover the involvement of EVs and their molecular cargo in ...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD049998 | Pride
Chronic obstructive pulmonary disease (COPD) is characterized by progressive airflow limitation and emphysema development, associated with enhanced tissue destruction and defective repair. Supporting cells in the alveolar niche play a crucial role in guiding the activation of alveolar epithelial pro...
ORGANISM(S): Homo sapiens (Human) 
2026-07-02 | PXD053755 | Pride
Analysis of the role of the proteome on lipid nanoparticle distribution
ORGANISM(S): Mus musculus (Mouse) 
2023-03-16 | PXD032311 | Pride
Alzheimer’s disease (AD), currently affecting millions of people worldwide, is the most prevalent form of dementia. Treatment strategies aiming to interfere with the formation of amyloid β (Aβ) plaques and neurofibrillary tangles (NFTs), the two major AD hallmarks, have shown modest or no effect. Re...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD047941 | Pride
Macrophages are key immune cells in tissues that are able to adapt their metabolic phenotype in response to different stimuli. Lysine deacetylases are important enzymes for regulating inflammatory gene expression and their inhibitors have anti-inflammatory effects in models of chronic obstructive pu...
ORGANISM(S): Mus musculus (Mouse) 
2024-02-21 | PXD040933 | Pride
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