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ELOVL4 encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids.
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ELOVL4 is significantly reduced in the diabetic retina.
mutations in the ELOVL4 gene lead to cone degeneration in humans, whereas mouse models expressing the mutant Elovl4 show predominant rod degeneration
Studies indicate that Knock-IN and Knock-OUT strains of ELOVL4 (STGD3) model development has been to unveil the causal connection between the genotype and early-onset progressive cone degeneration in humans.
ELOVL4 enzymatic activity is governed by individual histidines in its active site and the endoplasmic reticulum microenvironment.
To elucidate the role of VLC-PUFAs in photoreceptor terminals, we conditionally deleted Elovl4 in rod and cone photoreceptors of mice and measured inner retina function, synaptic connectivity, and ultrastructure of rod terminals with reduced VLC-PUFAs.
expression and outer segment mislocalization of the disease-linked 5-base-pair deletion mutant ELOVL4 protein alters photoreceptor structure and function
The mosaic deletion of rod-expressed ELOVL4 protein resulted in a 36 % lower amount of very long chain-PUFA in the retinal phosphatidylcholine (show SGMS2 Antibodies) (PC) fraction compared to retinas from wild-type mice.
ELOVL4 was strongly expressed within the holocrine meibomian and sebaceous glands but no ELOVL4 was detected within the central meibomian duct.
the presence of the mutant ELOVL4 does not affect the function of wild-type ELOVL4 in the fully developed 8- to 10-week-old retinas.
Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.
Normalization of retinal ELOVL4 expression could prevent blood-retinal barrier dysregulation in diabetic retinopathy through an increase in very long-chain ceramides and stabilization of tight junctions.
Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene
In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2 (show PRPH2 Antibodies). STGD (show ABCA4 Antibodies) patients of different ethnicities may carry distinct ELOVL4 and PRPH2 (show PRPH2 Antibodies) sequence variants. We believe that the genetic variations identified in this study may be related to STGD (show ABCA4 Antibodies) etiopathogenesis.
In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls.
Both ELOVL4- and PROM1-related maculopathies are characterized by progressive photoreceptor atrophy and central vision loss. Using advanced diagnostic imaging, early disease changes and disease progression can be characterized.
different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review)
Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree.
In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.
We propose that transgenic expression of ELOVL4 in the liver will result in the biosynthesis of very long chain-PUFA that can be transported to target.
ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family.
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration.
elongation of very long chain fatty acids protein 4
, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
, elongation of very long chain fatty acids family member protein 4
, ELOVL fatty acid elongase 4
, 3-keto acyl-CoA synthase Elovl4
, ELOVL FA elongase 4
, very-long-chain 3-oxoacyl-CoA synthase 4
, 3-keto acyl-CoA synthase ELOVL4
, Stargardt disease 3 (autosomal dominant)
, cancer/testis antigen 118
, elongation of very long chain fatty acids-like 4
, elongation of very long chain fatty acids 4