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Article

Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.

Proceedings of the National Academy of Sciences of the United States of America - 26 Mar 2013

Barabas Peter, Liu Aihua, Xing Wei, Chen Ching-Kang, Tong Zongzhong, Watt Carl B, Jones Bryan W, Bernstein Paul S, Križaj David

Abstract excerpt

Stargardt type 3 (STGD3) disease is a juvenile macular dystrophy caused by mutations in the ELOVL4 (Elongation of very long chain fatty acids 4) gene. Its protein product, ELOVL4, is an elongase required for the biosynthesis of very long-chain polyunsaturated fatty acids (VLC-PUFAs). It is unclear whether photoreceptor degeneration in STGD3 is caused by loss of VLC-PUFAs or by mutated ELOVL4 protein...

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Topics

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Share to Cell Survival
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatty Acids, Unsaturated

Share to Macular Degeneration

Share to Photoreceptor Cells, Vertebrate

Share to Retina

Share to Synaptic Transmission

Share to Vision, Ocular

Source

Open in PubMed Open full text

Identifiers

PMID: 23479632
DOI: 10.1073/pnas.1214707110
PMCID: PMC3612655

Genes

ELOVL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.PMID 23479632Read ↗

Examination of VLC-PUFA-deficient photoreceptor terminals.Semantic proximity Read ↗

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.Semantic proximity Read ↗

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.Semantic proximity Read ↗

Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.Semantic proximity Read ↗

In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Semantic proximity Read ↗

Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.Semantic proximity Read ↗

Mouse Models of Stargardt 3 Dominant Macular Degeneration.Semantic proximity Read ↗

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Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acidsSemantic proximity Read ↗

A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines.Semantic proximity Read ↗

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.Semantic proximity Read ↗

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.Semantic proximity Read ↗

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