A5079539800- Genetics and Neurodevelopmental Disorders
- Neurobiology and Insect Physiology Research
- Ion Channels and Receptors
- Cellular transport and secretion
- CRISPR and Genetic Engineering
- Machine Learning in Bioinformatics
- Wnt/β-catenin signaling in development and cancer
- Erythrocyte Function and Pathophysiology
- Immune Cell Function and Interaction
- Respiratory and Cough-Related Research
- Epigenetics and DNA Methylation
- Advanced Neuroimaging Techniques and Applications
- Toxin Mechanisms and Immunotoxins
- Insect and Arachnid Ecology and Behavior
- Physiological and biochemical adaptations
- Genomics and Rare Diseases
- Neurological and metabolic disorders
- Asthma and respiratory diseases
- Genetics, Aging, and Longevity in Model Organisms
- Diet and metabolism studies
- Neurological disorders and treatments
- Pancreatic function and diabetes
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Hippo pathway signaling and YAP/TAZ
Radboud University Nijmegen
2025
Radboud University Medical Center
2025
University Medical Center
2025
Fox Chase Chemical Diversity Center
2021
Manchester Academic Health Science Centre
2021
University of Manchester
2021
VIB-KU Leuven Center for Brain & Disease Research
2016-2019
Vlaams Instituut voor Biotechnologie
2018
KU Leuven
2018
University of Freiburg
2012-2014
A mutation in ORAI1, the gene encoding pore-forming subunit of Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates store-operated entry into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) endoplasmic reticulum activates ORAI1-CRAC channels. We report on three siblings from one kindred with a clinical syndrome immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, defective enamel dentition. Two these...
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
T-cell function is dependent on store-operated Ca(2+) influx that activated by the stromal interaction molecules (STIM) 1 and 2. We show mice with T-cell-specific deletion of STIM1 or STIM2 are protected from EAE, a mouse model multiple sclerosis (MS). While STIM1- STIM2-deficient T cells could be successfully primed autoantigen, they failed to produce proinflammatory cytokines IL-17 IFN-γ. STIM1-deficient showed reduced expression IL-23R, required for Th17 cell homeostasis, had impaired...
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, epilepsy being the main clinical manifestation. The protein consists of unique association a Tre2/Bub2/Cdc16 (TBC) domain and TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense loss-of-function described are spread over entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H G501R, within TLDc domain, an index family Rolandic exercise-induced...
Epilepsy is a mechanistically complex, incompletely understood neurological disorder. To uncover novel converging mechanisms in epilepsy, we used Drosophila whole-brain single-cell RNA-sequencing to refine and characterize previously proposed human epilepsy-associated gene co-expression network (GCN). We identified conserved co-expressed module of 26 genes, which comprises fly orthologs 13 genes integrates synaptic metabolic functions. Over one-third the pan-neuronal knockdown models...
Neph molecules are highly conserved immunoglobulin superfamily proteins (IgSF) which essential for multiple morphogenetic processes, including glomerular development in mammals and neuronal as well nephrocyte D. melanogaster. While melanogaster expresses two Neph-like (Kirre IrreC/Rst), three (Neph1–3) expressed the mammalian system. However, although these abundant, their molecular functions still poorly understood. Here we report on a fly system overexpress replace endogenous homologs with...
Each neuropil module, or cartridge, in the fly's lamina has a fixed complement of cells. Of five types monopolar cell interneurons, only L4 collaterals that invade neighboring cartridges. In proximal lamina, these form reciprocal synapses with both L2 their own cartridge and collateral branches from two other During synaptogenesis, strongly express adhesion protein Kirre, member irre recognition module (IRM) group proteins (, J Neurogenet, 23, 48–67). The authors show by mutant analysis gene...