Helen May‐Simera

The paper shows that loss of IFT20 and IFT88 in RPE cells impairs phagocytosis and metabolism by affecting photoreceptor binding, membrane morphology, and mitochondrial function.

This study shows KIF13B regulates ciliary protein content by promoting endocytic retrieval and suppressing large EV release from cilia, with distinct effects during ciliation stages.

This study shows that primary cilia dysfunction in Bbs8-/- mice reduces adipose stem cells and promotes fibrogenic progenitors via disrupted Hedgehog signaling, affecting adipogenesis and lipid uptake.

This study identifies the TRiC/CCT-BBS chaperonin co-complex as essential for ADGRV1 localization to primary cilia and shows its role in ciliogenesis and disease.

This study compares immature and mature iPSC-RPE and ARPE-19 cells, showing that mature cells secrete active complement forms and process C3 differently, impacting local complement activation.

This study shows that loss of Bbs8 in mice causes cystic kidney disease by reducing ciliary alpha-tubulin acetylation through increased HDAC2 activity.

This study creates a humanized pig model of Usher syndrome type 1, showing disrupted photoreceptor architecture and vision loss, and validates gene therapy approaches.