Retinal organoids from an AIPL1 CRISPR/Cas9 knockout Cell line successfully recapitulate the molecular features of LCA4 disease
PRL Perdigão, B Ollington, H Sai, A Leung… - International Journal of …, 2023 - mdpi.com
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is expressed in photoreceptors
where it facilitates the assembly of phosphodiesterase 6 (PDE6) which hydrolyses cGMP …
where it facilitates the assembly of phosphodiesterase 6 (PDE6) which hydrolyses cGMP …
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
A Sacristan-Reviriego, HM Le, M Georgiou, I Meunier… - Scientific reports, 2020 - nature.com
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 …
with a broad spectrum of inherited retinal diseases ranging from severe autosomal recessive …
Inherited Retinal Degenerations in the Pediatric Population
B Lorenz, MN Preising - A Quick Guide to Pediatric Retina, 2021 - Springer
Inherited retinal degenerations (IRDs) are usually progressive disorders that may be difficult
to diagnose in early childhood and look different from more advanced stages. This chapter …
to diagnose in early childhood and look different from more advanced stages. This chapter …
Molecular investigations of the pathogenesis of Leber congenital amaurosis
AN Boehm - 2020 - kops.uni-konstanz.de
Visual impairment or even vision loss can mean dramatic restrictions for those affected and
thus imply a severe handicap. Inherited retinopathies represent a main cause of vision loss …
thus imply a severe handicap. Inherited retinopathies represent a main cause of vision loss …