Dominik Paquet

This study identifies the rs28834970 variant in PTK2B as a risk factor for Alzheimer's disease, showing it impairs PYK2 function, increases Tau phosphorylation, and alters APP processing in human neuronal cultures.

This paper develops a 3D cortical brain tissue model with mature microglia that recapitulates Alzheimer's disease hallmarks and enables study of microglia phenotypes.

The paper identifies cell-specific DNA loops linked to RNA polymerase II elongation during human neural differentiation and shows their role in gene expression changes.

The paper identifies multi-loop chromatin miswiring in FAD-mutant neurons that correlates with gene expression changes and DLX transcription factor activity.

This study shows that reduced progranulin leads to increased legumain activity, which promotes TDP-43 pathology in FTLD, suggesting legumain as a therapeutic target.

The paper identifies a microglial activity biomarker panel that differentiates FTD-GRN and AD cases from controls using proteomic analysis in mouse models and human samples.

Peripheral AAV-mediated delivery of brain-penetrant PGRN rescues TDP-43 pathology, neurodegeneration and motor phenotypes in FTLD-GRN models.

The paper identifies and characterizes a reference iPSC line, KOLF2.1J, for standardized use in collaborative studies across multiple differentiation protocols and assays.

This study shows that TREM2 deficiency reduces microglial hyperactivation in GRN-deficient models but does not rescue lysosomal dysfunction or neurodegeneration biomarkers.

The paper identifies deleterious on-target effects in CRISPR-edited human stem cells and introduces qgPCR and sequencing tools to detect them reliably.