Kerstin Nagel‐Wolfrum

This study uses retinal organoids from USH1C patients to show disrupted Muller glia signaling leads to retinal degeneration and loss of integrity.

This study identifies ADGRV1's role in astrocyte glutamate homeostasis and neuron development, linking its deficiency to epilepsy pathophysiology.

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.

This study creates a humanized pig model of Usher syndrome type 1, showing disrupted photoreceptor architecture and vision loss, and validates gene therapy approaches.

This study shows human brain organoids can form bilateral optic vesicles with cellular diversity and functionality, including light-responsive photoreceptors and neuronal networks.