Karsten Boldt

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.

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 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.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.

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

This study identifies KIF1C as a neuronal transporter of the exon junction complex, showing its interaction with EJC components and RNA, and links its dysfunction to motoneuron degeneration.

This study identifies Synaptotagmin 13 as a key regulator of endocrine cell egression and islet formation through its role in cell polarity and basement membrane remodeling.

This study identifies UBE2E1 and MKS1 as components of the ubiquitin proteasome system regulating Wnt signaling at the primary cilium, linking ciliary defects to ciliopathy pathogenesis.

This study identifies WDR31 as a ciliary protein that functions redundantly with ELMOD and RP2 to regulate IFT trains via BBSome, affecting cilia morphology and IFT dynamics.

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.