Roman I. Koning

This study shows that deleting Phd2 in Crb1/Crb2-deficient mice partially improves retinal function and structure but does not correct underlying defects.

This study demonstrates that high-capacity adenoviral vectors can restore USH2A protein expression and its interacting partners in USH2A-defective retinal organoids.

The paper investigates VAP family tether selectivity and dynamics at membrane contact sites, revealing distinct MCS footprints and compensatory mechanisms in cellular homeostasis.

This study uses hiPSC-derived retinal organoids to show that ABCA4 loss in photoreceptors disrupts glial cell homeostasis, suggesting a role for glial cells in Stargardt disease progression.

The paper identifies MARCKSL1 as a regulator of extracellular vesicle secretion pathways through a CRISPR activation screen and functional studies.

This study identifies VAPB and AKAP11 as regulators of lipid droplet homeostasis by mediating neutral lipid degradation through membrane contact sites and PKA activity.

This study compares supervised machine learning and expert assessment in quantifying ultrastructural changes in macrophages, finding sML provides more objective and sensitive analysis of subtle differences.

This paper establishes HD10.6 neurons as an in vitro model for studying VZV latency and reactivation, showing they support viral infection, persistence, and reactivation with capsaicin.

This paper investigates how a COL6A3 mutation affects chondrocyte response to mechanical stress in a human iPSC-derived cartilage organoid model, finding reduced PCM protein binding and impaired stress response.