Ronald Roepman

The paper identifies primary cilia as a signaling platform for c-KIT in pancreatic alpha cells, showing that c-KIT signaling via SCF promotes proliferation and may contribute to hyperglucagonemia in obesity and diabetes.

This study shows that loss of INPP5E in human retinal organoids disrupts photoreceptor outer segment membrane biogenesis and alters protein localization.

This study identifies primary cilia as regulators of neuronal homeostatic plasticity, showing they dynamically change volume in response to activity levels and that ciliary dysfunction impairs multiple aspects of homeostasis.

The paper investigates the interactions of ciliary tip proteins and their role in microtubule dynamics, finding that they form structures that slow and processively elongate microtubules.

This study shows DLG1 regulates ciliary protein trafficking in kidney cells, with loss of DLG1 causing ciliary elongation and cysts, and a specific DLG1 variant linked to kidney disease.

This study uses expansion microscopy to investigate LCA5-related photoreceptor defects and evaluates gene therapy efficacy in a mouse model.

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.