Article
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
Scientific reports - 16 Oct 2020
Sacristan-Reviriego Almudena, Le Hoang Mai, Georgiou Michalis, Meunier Isabelle, Bocquet Beatrice, Roux Anne-Françoise, Prodromou Chrisostomos, Bainbridge James, Michaelides Michel, van der Spuy Jacqueline
Abstract excerpt
Disease-causing sequence variants in the highly polymorphic AIPL1 gene are associated with a broad spectrum of inherited retinal diseases ranging from severe autosomal recessive Leber congenital amaurosis to later onset retinitis pigmentosa. AIPL1 is a photoreceptor-specific co-chaperone that interacts with HSP90 to facilitate the stable assembly of retinal cGMP phosphodiesterase, PDE6. In this report, we...
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