Helen May‐Simera

Loss of ciliary proteins IFT20 and IFT88 results in defective phagocytosis and metabolism in the RPE

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.

The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to primary cilia

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.

Maturation-dependent complement production and C3 processing in human retinal pigment epithelium cells

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.

Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2

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

Early Disruption of Photoreceptor Cell Architecture and Loss of Vision in a Humanized Pig Model of Usher Syndrome

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