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

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

Journal of lipid research - 1 Jan 2023

Gyening Yeboah Kofi, Chauhan Neeraj Kumar, Tytanic Madison, Ea Vicki, Brush Richard S, Agbaga Martin-Paul

Abstract excerpt

The FA Elongase-4 (ELOVL4) enzyme mediates biosynthesis of both very long chain (VLC)-PUFAs and VLC-saturated FA (VLC-SFAs). VLC-PUFAs play critical roles in retina and sperm function, whereas VLC-SFAs are predominantly associated with brain function and maintenance of the skin permeability barrier. While some ELOVL4 mutations cause Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), other ELOVL4 point...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatty Acids, Unsaturated

Share to Membrane Proteins

Share to Mutation

Share to Skin Diseases, Genetic

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 36464075
DOI: 10.1016/j.jlr.2022.100317
PMCID: PMC9823237

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.PMID 36464075Read ↗

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

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Semantic proximity Read ↗

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

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

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.Semantic proximity Read ↗

ELOVL5 mutations cause spinocerebellar ataxia 38.Semantic proximity Read ↗

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

Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient miceSemantic proximity Read ↗

A comprehensive review of the family of very-long-chain fatty acid elongases: structure, function, and implications in physiology and pathologySemantic proximity Read ↗

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.Semantic proximity Read ↗

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.Semantic proximity Read ↗

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