Marius Ueffing

This study shows that inhibiting VCP with ML240 prevents cone photoreceptor degeneration in a mouse model of achromatopsia without affecting rod photoreceptors.

This study shows that VCP inhibition with ML240 protects photoreceptors from hydroquinone-induced oxidative stress in a human iPSC-RPE/porcine neuroretina co-culture model.

This study identifies a LRRK2-regulatory network through proximity proteomics and structural analysis, showing its link to centrosomes and how its conformation and activity state influence interactions.

This study evaluates three VCP-targeted therapies in a mouse model of retinitis pigmentosa, finding that nanocarrier-encapsulated ML240 provides the best protection against photoreceptor degeneration.

This study shows that the CFH Y402H polymorphism increases vulnerability of iPSC-RPE cells to Hydroquinone-induced oxidative stress, suggesting genetic risk predisposition rather than soluble FH effects.

This paper introduces a novel mouse model of dominant retinitis pigmentosa caused by the RHO{Delta}I255 mutation, showing rapid photoreceptor degeneration, neuroinflammation, and disrupted neuronal connectivity.

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 paper establishes a STED microscopy protocol for super-resolution imaging of whole-mount mouse retinas, achieving sub-120 nm resolution for subcellular structures.

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 investigates the effects of a histone demethylase inhibitor on cone cell survival in a mouse model of cone dystrophy, finding epigenetic modulation improves cone survival.

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 shows that mTOR inhibition with rapamycin partially rescues metabolic defects in RPE cells caused by CFH loss, suggesting a link between intracellular FH and the ubiquitin-proteasomal pathway.

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 shows that inhibiting VCP activity rescues degenerating P23H rod cells and improves their function in retinal models of adRP.

This study shows HDAC inhibition delays cone death in RP mice by protecting multiple survival pathways, even after most rods have degenerated.

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.