Article

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophy

2026-05-03

Abstract excerpt

Pathogenic variants in IFT140 are associated with a spectrum of syndromic and non-syndromic ciliopathies, with retinal degeneration as a common feature. Despite advances in understanding IFT140 function across various tissues, human retina-specific models are lacking. Here, we show that knock-in mice homozygous for the IFT140 patient variant c.932A>G (p.Y311C) did not develop retinal degeneration, while mice wit...

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Literature Corpus work: 76d264d1-f846-580d-aa66-3d5e168a3103
DOI: 10.64898/2026.04.29.720656

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