ReviewProgress in retinal and eye research2019
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Review in Progress in retinal and eye research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 81 citations in OpenAlex.
- Article
- Integrated Transcriptomic and Metabolomic Profiling Reveals Candidate Genes and Metabolites Associated with Abdominal Fat Deposition in Pekin Ducks.Animals : an open access journal from MDPI · 2026Article
- Region-Specific Lipid Alterations Around the 28-Year Transition as Early Indicators of Skin Aging.Metabolites · 2026Article
- Testis-specific knockout of Elovl4 reduces sperm motility and fertility in male mice.Scientific reports · 2026Article
- Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.Journal of translational medicine · 2025Article
- Impact of Elovl5 Deficiency on Cerebellar Excitatory Synaptic Transmission in Mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Physiological Effects of Water Salinity on Metabolism and Fatty Acid Biosynthesis in the Model FishAnimals : an open access journal from MDPI · 2025Article
- Comparison of lipid profiles and nutritional quality of 11 red-flowered oil-tea camellia through quantitative lipidomics and chemometrics.Food chemistry: X · 2025Article
- Implications of Fatty Acids for Age-Related Macular Degeneration: Evidence and Recommendations.Cells · 2025Review
- Plasma Fatty Acid Profiling and Mathematical Estimation of the Omega-3 Index: Toward Diagnostic Tools in Atherosclerosis and Statin Therapy Monitoring.Biomedicines · 2025Article
- Integrative bioinformatics and machine learning approach unveils potential biomarkers linking coronary atherosclerosis and fatty acid metabolism-associated gene.Journal of cardiothoracic surgery · 2025Article
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Correlation and regression analysis of theArchives animal breeding · 2025Article
- Selective association of plasma sphingolipid species with insulin sensitivity and secretion in normoglycemic Black and White American adults.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- UPLC-MS/MS reveals the differences in lipids composition ofFood chemistry: X · 2024Article
- Developmental and Molecular Effects of C-Type Natriuretic Peptide Supplementation in In Vitro Culture of Bovine Embryos.International journal of molecular sciences · 2024Article
- A comparative analysis reveals the genomic diversity among 8 Muscovy duck populations.G3 (Bethesda, Md.) · 2024Article
- A gram-scale synthesis of very-long chain polyunsaturated fatty acids (VLC-PUFAs).Organic & biomolecular chemistry · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
ELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in brain, retina, skin, Meibomian glands, and testes. Fascinatingly, different mutations in this gene have been reported to cause vastly different phenotypes in humans. Heterozygous inheritance of seven different mutations in the coding sequence and 5' untranslated region of ELOVL4 causes autosomal dominant Stargardt-like macular dystrophy (STGD3), while homozygous inheritance of three more mutant variants causes severe seizures with ichthyosis, hypertonia, and even death. Some recent studies have described heterozygous inheritance in yet another three mutant ELOVL4 variants, two that cause spinocerebellar ataxia-34 (SCA34) with erythrokeratodermia (EKV) and one that causes SCA34 without EKV. We identified the specific enzymatic reactions catalyzed by ELOVL4 and, using a variety of genetically engineered mouse models, have actively searched for the mechanisms by which ELOVL4 impacts neural function and health. In this review, we critically compare and contrast the various animal model and case studies involving ELOVL4 deficiency via either mutation or deletion, and the resulting consequences on neuronal health and function in both the retina and central nervous system.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.