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Article

Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability.

Molecular vision - 31 Mar 2004

Karan Goutam, Yang Zhenglin, Zhang Kang

Abstract excerpt

PURPOSE: ELOVL4 is a member of the fatty acid elongase (ELO) family of genes. Mutations of this gene are responsible for autosomal dominant Stargardt-like macular degeneration. However, the specific role of ELOVL4 in photoreceptor cells and the mechanism by which mutations in ELOVL4 causes macula...

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Identifiers

PMID: 15073583

Genes

ELOVL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15073583-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability.PMID 15073583Read ↗

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.Semantic proximity Read ↗

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.Semantic proximity Read ↗

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

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.Semantic proximity Read ↗

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

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.Semantic proximity Read ↗

Elovl4 5-bp-deletion knock-in mice develop progressive 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 ↗

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

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