Impacts of deletion and ichthyosis prematurity syndrome‐associated mutations in fatty acid transport protein 4 on the function of RPE65-Reference-Cited by-同舟云学术

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Impacts of deletion and ichthyosis prematurity syndrome‐associated mutations in fatty acid transport protein 4 on the function of RPE65

Published:2019-10-20 Issue:3 Volume:594 Page:540-552
ISSN:0014-5793
Container-title:FEBS Letters
language:en
Short-container-title:FEBS Lett

Author:

Li Songhua¹,Green John F.¹,Jin Minghao¹²^ORCID

Affiliation:

1. Neuroscience Center of Excellence Louisiana State University School of Medicine New Orleans LA USA

2. Department of Ophthalmology Louisiana State University School of Medicine New Orleans LA USA

Funder

National Institutes of Health

Research to Prevent Blindness

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/1873-3468.13633

Reference63 articles.

1. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium‐specific microsomal protein that is post‐transcriptionally regulated in vitro;Hamel CP;J Biol Chem,1993

2. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

3. Rpe65 Is the Retinoid Isomerase in Bovine Retinal Pigment Epithelium

4. RPE65 is the isomerohydrolase in the retinoid visual cycle

5. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle

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1. Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-cis-Retinal inrd12 Mouse Model of Leber Congenital Amaurosis;The Journal of Neuroscience;2024-05-29

2. Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds;Veterinary Sciences;2022-08-15

3. Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation;Proceedings of the National Academy of Sciences;2020-11-30

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