Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.

Proceedings of the National Academy of Sciences of the United States of America - 2 Apr 2013

Logan Sreemathi, Agbaga Martin-Paul, Chan Michael D, Kabir Nabila, Mandal Nawajes A, Brush Richard S, Anderson Robert E

Abstract excerpt

Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long-chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction. ELOVL4 protein localizes to the endoplasmic reticulum, where it mediates the condensation reaction catalyzing the formation of very-long-chain (VLC) (C-28 to C-40) fatty...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenoviridae
Share to Analysis of Variance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Eye Proteins

Share to Fatty Acids, Unsaturated

Share to Genes, Dominant

Share to Macular Degeneration

Share to Microsomes

Source

Open in PubMed Open full text

Identifiers

PMID: 23509295
DOI: 10.1073/pnas.1217251110
PMCID: PMC3619277

Genes

ELOVL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.PMID 23509295Read ↗

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

Genetics and molecular pathology of Stargardt-like macular degeneration.Semantic proximity Read ↗

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

Current Progress in Deciphering Importance of VLC-PUFA in the Retina.Semantic proximity Read ↗

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?Semantic proximity Read ↗

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

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

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.