AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase-Reference-Cited by-同舟云学术

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AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

Published:2004-09-13 Issue:38 Volume:101 Page:13903-13908
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Liu X.,Bulgakov O. V.,Wen X.-H.,Woodruff M. L.,Pawlyk B.,Yang J.,Fain G. L.,Sandberg M. A.,Makino C. L.,Li T.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference49 articles.

1. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

2. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

3. An overview of leber congenital amaurosis: a model to understand human retinal development

4. The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

5. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

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5. Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4;Molecular Therapy - Nucleic Acids;2024-03

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