Annelies Quaegebeur

mRNA-LNP therapy restores systemic nucleoside imbalance in a mitochon-drial DNA depletion syndrome

This study develops mRNA-LNP therapy for MNGIE, restoring nucleoside balance and TP expression in mice through subcutaneous delivery.

Activation of transposable elements is linked to a region- and cell-type-specific interferon response in Parkinson's disease

The paper investigates TE transcription in Parkinson's disease brains, finding region- and cell-type-specific TE activation linked to an interferon response in microglia and neurons.

Nanoscopic tau aggregates in Parkinson's disease

This study uses SiMPull to detect nanoscopic tau aggregates in PD brain regions, finding high-intensity aggregates in some PD cases despite negative IHC results.

Tau aggregate replication occurs at the pre-synapse of cultured human neurons and increases with application of TNFa

The paper shows TNFα promotes tau aggregation at pre-synapses in human neurons, forming non-fibrillar aggregates that replicate rapidly.

TEsingle enables locus-specific transposable element expression analysis at single-cell resolution

TEsingle provides locus-specific transposable element expression analysis in single-cell data, revealing cell-type-specific TE expression in Parkinson's Disease.

Small tau aggregates exhibit disease-specific molecular profiles across tauopathies

The paper identifies disease-specific molecular profiles of small tau aggregates across different tauopathies using single-molecule assays.

Early synaptic pathology is associated with small tau aggregates in Alzheimer's disease

The paper examines tau aggregates in Alzheimer's disease synaptosomes, finding that small tau aggregates are associated with early synaptic pathology.

Uncertainty-Aware Tau Detection in Progressive Supranuclear Palsy Using Object Detection Models

This paper uses deep learning object detection models to automate tau lesion identification in PSP brain slides, incorporating uncertainty quantification to improve reliability and clinical relevance.

Super-resolution microscopy of nanoscopic alpha-synuclein aggregates in brain samples indicates a subset of cells have disrupted protein homeostasis prior to Lewy body formation in Parkinson's disease

The paper uses super-resolution microscopy and SIMOA to analyze alpha-synuclein aggregates in Parkinson's disease brain samples and mouse models, finding larger aggregates in PD samples and differences based on extraction methods.

A molecular atlas of cell-type specific signatures in the parkinsonian striatum.

This study maps cell-type specific transcriptional changes in the parkinsonian striatum across species, identifying vulnerable and resilient cell types.

A spatiotemporal cancer cell trajectory underlies glioblastoma heterogeneity

The paper identifies a spatiotemporal cancer cell trajectory in glioblastoma that explains tumor heterogeneity across regions and subclones.

SynPull: a novel method for studying neurodegeneration-related aggregates in synaptosomes using super-resolution microscopy

SynPull combines single-molecule pulldown, super-resolution microscopy, and computational analysis to study protein aggregates in synaptosomes from human and mouse samples, revealing AT8-positive tau as the predominant aggregate in Alzheimer's disease.

The annotation and function of the Parkinson's and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

L1 retrotransposons drive human neuronal transcriptome complexity and functional diversification

This study shows L1 retrotransposons contribute to human brain transcriptome complexity and functional diversification through cell-type specific transcripts and regulatory RNAs.