A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Abstract. Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the iden

I'm very proud and happy to share our work of many (many!) years, on a novel ARL3-G70E variant, linked to IRD. 🎉

📖 Read the full paper here:

academic.oup.com/hmg/advance-...
#ARL3 #retina #cilia #RPE #organoids

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Great multidisciplinary collaboration from the European Retinal Disease Consortium showing clinical variability of dominant ARL3-IRD and ARL3 dysfunction in iPSC-RPE and retinal organoids, for the first time, highlighting its role for retinal homeostasis
#ARL3 #G70E #retina #RPE #organoids #ERDC