Evidence map›Paper›PMID 21429867›Full record

ArticleJournal of lipid research2011

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.

Anne McMahon, Igor A Butovich, Wojciech Kedzierski

Open access · hybridAbstract read
In one paragraph

Article in Journal of lipid research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
1.9field-weighted citation impact, top 15% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 35 citations in OpenAlex.

  1. Article
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  3. Physiological effects of inactivation and the roles of Elovl3/ELOVL3 in maintaining ocular homeostasis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021
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  10. Meibomian glands, meibum, and meibogenesis.Experimental eye research · 2017
    Review
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  14. Feeding filaggrin: effects of l-histidine supplementation in atopic dermatitis.Clinical, cosmetic and investigational dermatology · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Anne McMahonDepartment of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390. Electronic address: Anne.Mcmahon@utsouthwestern.edu.
Igor A ButovichDepartment of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Wojciech KedzierskiDepartment of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390.
The University of Texas Southwestern Medical Center · US

Funding

Core Grant for Vision ResearchP30EY020799 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI NIEDERKORN, JERRY · 2010 to 2016
$4.1M
Biochemistry and Biophysics of the Preocular Tear FilmR01EY019480 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI BUTOVICH, IGOR A · 2010 to 2014
$1.7M
Elovl4 in Retinal Physiology and PathophysiologyR01EY018395 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI KEDZIERSKI, WOJCIECH · 2007 to 2009
$936k
NEI NIH HHS EY-020799NEI NIH HHS P30 EY020799NEI NIH HHS R01 EY-01019480NEI NIH HHS R01 EY-018395NEI NIH HHS R01 EY018395NEI NIH HHS R01 EY019480
6 · The paper itself

Abstract

Elongase of very long chain fatty acids-4 (ELOVL4) is the only mammalian enzyme known to synthesize C28-C36 fatty acids. In humans, ELOVL4 mutations cause Stargardt disease-3 (STGD3), a juvenile dominant macular degeneration. Heterozygous Stgd3 mice that carry a pathogenic mutation in the mouse Elovl4 gene demonstrate reduced levels of retinal C28-C36 acyl phosphatidylcholines (PC) and epidermal C28-C36 acylceramides. Homozygous Stgd3 mice die shortly after birth with signs of disrupted skin barrier function. In this study, we report generation of transgenic (Tg) mice with targeted Elovl4 expression driven by an epidermal-specific involucrin promoter. In homozygous Stgd3 mice, this transgene reinstates both epidermal Elovl4 expression and synthesis of two missing epidermal lipid groups: C28-C36 acylceramides and (O-linoleoyl)-omega-hydroxy C28-C36 fatty acids. Transgene expression also restores skin barrier function and rescues the neonatal lethality of homozygous Stgd3 mice. These studies establish the critical requirement for epidermal C28-C36 fatty acid synthesis for animal viability. In addition to the skin, Elovl4 is also expressed in other tissues, including the retina, brain, and testes. Thus, these mice will facilitate future studies to define the roles of C28-C36 fatty acids in the Elovl4-expressing tissues.

Indexed as

Eye ProteinsMembrane ProteinsAnimalsAnimals, NewbornCeramidesChromosome DisordersChromosomes, Human, Pair 6Disease Models, AnimalEpidermisFatty AcidsFounder EffectHeterozygoteHomozygoteHumansMacular DegenerationMiceCeramidesElovl4 protein, mouseEye ProteinsFatty AcidsinvolucrinMembrane ProteinsPhosphatidylcholinesProtein PrecursorsTolonium Chloride

Identifiers

PMID21429867
PMCPMC3090234
OpenAlexW2118990328

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.