Sylvia Bolz

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.

A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa

This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.

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.

Inhibition of VCP preserves retinal structure and function in autosomal dominant retinal degeneration

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