Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference58 articles.
1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
2. Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice
3. Retinal Stimulates ATP Hydrolysis by Purified and Reconstituted ABCR, the Photoreceptor-specific ATP-binding Cassette Transporter Responsible for Stargardt Disease
4. N-Retinylidene-phosphatidylethanolamine Is the Preferred Retinoid Substrate for the Photoreceptor-specific ABC Transporter ABCA4 (ABCR)
5. Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
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1. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report;Acta Neuropathologica Communications;2023-08-11
2. Non-surgical In Vivo Germ Cell-mediated Gene Editing by CRISPR Mutagenic Chain Reaction with the Aid of Magnetic Nanoparticles;Current Medicinal Chemistry;2023-02
3. Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34;Molecular and Cellular Biology;2023-02-01
4. Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4;Journal of Lipid Research;2021
5. Lipid metabolism dysregulation in diabetic retinopathy;Journal of Lipid Research;2021
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