Prasoon Kumar Thakur on Muck Rack

Prasoon Kumar Thakur

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PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects

|
By Felix Zimmann, Poulami Banik, Jan Kubovciak, Prasoon Kumar Thakur
| biorxiv.org
Abstract Retinitis pigmentosa (RP) is an inherited retinal disorder characterized by the progressive loss of photoreceptors that currently lacks effective treatment. Here, we investigated the impact of the pathogenic PRPF8-Y2334N variant on neural retina cells in hiPSC-derived retinal organoids. Expression of this variant resulted in photoreceptor defects, including thinning of the outer segment layer.
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