Publications by authors named "F Koopmans"

Gene set enrichment analysis is foundational to the interpretation of high throughput biology. Identifying enriched Gene Ontology (GO) terms or disease-associated gene sets within a list of gene effect sizes that represent experimental outcomes is an everyday task in life science that crucially depends on robust and sensitive statistical tools. We here present GOAT, a parameter-free algorithm for gene set enrichment analysis of preranked gene lists.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates a neurodevelopmental disorder (-RD) caused by mutations in the MUNC18-1 gene, leading to symptoms like developmental delay and seizures, with varying severity among patients.
  • Using advanced techniques, researchers analyzed neurons derived from patients' stem cells, finding reduced levels of the MUNC18-1 protein, along with dysregulated proteins linked to synapse function and altered neuronal network activity.
  • The findings reveal common cellular traits across patients with -RD while also highlighting distinct phenotypic differences, suggesting varied underlying mechanisms of the disorder that could inform future research and therapy development.
View Article and Find Full Text PDF

GABA receptors are the major inhibitory receptors in the brain. They are hetero-pentamers with a composition of predominantly two α, two β, and one γ or δ subunit. Of the six α subunit genes, the α5 subunit displays a limited spatial expression pattern and is known to mediate both phasic and tonic inhibition.

View Article and Find Full Text PDF

Introduction: Early-life stress (ES) increases the risk for Alzheimer's disease (AD). We and others have shown that ES aggravates amyloid-beta (Aβ) pathology and promotes cognitive dysfunction in APP/PS1 mice, but underlying mechanisms remain unclear.

Methods: We studied how ES affects the hippocampal synaptic proteome in wild-type (WT) and APP/PS1 mice at early and late pathological stages, and validated hits using electron microscopy and immunofluorescence.

View Article and Find Full Text PDF

Suspension TRAPping filter (sTRAP) is an attractive sample preparation method for proteomics studies. The sTRAP protocol uses 5% SDS that maximizes protein solubilization. Proteins are trapped on a borosilicate glass membrane filter, where SDS is subsequently removed from the filter.

View Article and Find Full Text PDF