Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder et al.
· JAMA ophthalmology · 0 citations
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Open access
Aug 2026
Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.
This study develops induced pluripotent stem cell-derived RPE models (iRPE) and identifies two drugs, pioglitazone, a mitochondrial metabolic modulator, and galunisertib, a TGFBR1 inhibitor, as potential therapeutic candidates for multiple ciliopathy subtypes.
Dominik Reichert, Sena Gul, D. Ortolan et al.
· Cell Reports · 0 citations