Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations-Reference-Cited by-同舟云学术

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations

Published:2007-07 Issue:15 Volume:47 Page:2055-2066
ISSN:0042-6989
Container-title:Vision Research
language:en
Short-container-title:Vision Research

Author:

Sun Wenyu,Gerth Christina,Maeda Akiko,Lodowski David T.,Van Der Kraak Lauren,Saperstein David A.,Héon Elise,Palczewski Krzysztof

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference44 articles.

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3. Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis;Aleman;Investigative Ophthalmology and Visual Science,2004

4. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis;Batten;PLoS Medicine,2005

5. Biochemical Properties of Purified Human Retinol Dehydrogenase 12 (RDH12): Catalytic Efficiency toward Retinoids and C9 Aldehydes and Effects of Cellular Retinol-Binding Protein Type I (CRBPI) and Cellular Retinaldehyde-Binding Protein (CRALBP) on the Oxidation and Reduction of Retinoids

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1. Pseudocoloboma-like maculopathy with biallelicRDH12missense mutations;Journal of Medical Genetics;2023-01-23

2. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy;Investigative Opthalmology & Visual Science;2022-08-22

3. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations;Brain Topography;2022-01-10

4. Pharmaceutical interest of in-silico approaches;Physical Sciences Reviews;2022-01-06

5. Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art;Frontiers in Medicine;2021-10-15