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Eupatilin improves cilia defects in human CEP290 ciliopathy models

2023-04-12

Abstract excerpt

The photoreceptor outer segment is a highly specialized primary cilium essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and syndromic diseases, where the retina is also affected. While RNA antisense oligonucleotides and gene editing are potential treatment options for the common deep intronic var...

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Literature Corpus work
1e1b62c1-0c9b-57e0-b14d-6e0c09c349b2
DOI
10.1101/2023.04.12.536565
Open publication

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Eupatilin improves cilia defects in human CEP290 ciliopathy modelsDOI 10.1101/2023.04.12.536565
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