Ellen Kilger

VCP inhibition prevents cone photoreceptor degeneration in the cpfl1 mouse model of achromatopsia

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

VCP inhibition preserves photoreceptor integrity under hydroquinone-induced oxidative stress in a human iPSC-RPE/porcine neuroretina co-culture model

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.

Ocular delivery of different VCP inhibitory formulations prevents retinal degeneration in rhodopsin 255 isoleucine deletion mice

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.

The AMD-associated genetic polymorphism CFH Y402H confers vulnerability to Hydroquinone-induced stress in iPSC-RPE cells

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.

Autosomal dominant Retinitis Pigmentosa caused by the rhodopsin isoleucine 255 deletion features rapid neuroretinal degeneration, decreased synaptic connectivity, and neuroinflammation.

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.

mTOR inhibition via Rapamycin treatment partially reverts the deficit in energy metabolism caused by FH loss in RPE cells

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.