A5089698618- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Liver Disease Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- Congenital limb and hand anomalies
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Neonatal Respiratory Health Research
- Genital Health and Disease
- Congenital Diaphragmatic Hernia Studies
- Infant Development and Preterm Care
- Lipid metabolism and biosynthesis
- Diet, Metabolism, and Disease
- Metabolomics and Mass Spectrometry Studies
KU Leuven
2019-2025
VIB-KU Leuven Center for Cancer Biology
2022-2025
Royal Children's Hospital
2023
Primary mitochondrial diseases (PMD) are a large, heterogeneous group of genetic disorders affecting function, mostly by disrupting the oxidative phosphorylation (OXPHOS) system. Understanding cellular metabolic re-wiring occurring in PMD is crucial for development novel diagnostic tools and treatments, as often complex to diagnose most them currently have no effective therapy.To characterize consequences OXPHOS dysfunction based on signature, design new therapeutic strategies.In vitro...
Inherited metabolic disorders (IMDs) are genetic that occur in as many 1:2500 births worldwide. Nevertheless, they quite rare individually and even more is the co-occurrence of two IMDs one individual. To better understand cross-talk between glycosylation changes deficient energy metabolism, its potential effect on outcomes, we evaluated patient fibroblasts with likely pathogenic variants PGM1 NDUFA13 derived from a who passed away at 16 years age. The presented characteristic PGM1-CDG...
Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), while primary deficiencies the respiratory chain (MRC) rare and atypical for this etiology. This study aims to report
Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting function. Although next generation sequencing technologies have revolutionized the diagnosis these disorders, biochemical tests remain essential and functional confirmation critical diagnosis. While enzymological testing oxidative phosphorylation (OXPHOS) complexes remains gold standard, oxygraphy could offer several advantages. To this end, we compared diagnostic performance both techniques in...
Proteins organize into functional assemblies that drive diverse biological activities. Leveraging a comprehensive dataset of manually curated annotations for the human protein complexome, we investigated perturbations at complex level. Using proteomics and transcriptomics data from fibroblasts patients with inborn errors metabolism (IEM) control samples, globally mapped information onto subunits to discern affected processes. Across patient cohort (consisting organic acidaemias, fatty acid...