anti-ELOVL Fatty Acid Elongase 4 (ELOVL4) Antibodies

Mouse (Murine) ELOVL Fatty Acid Elongase 4 (ELOVL4) interaction partners

1. these studies establish a critical, novel role for ELOVL4 and its VLC-SFA products in regulating synaptic release kinetics and epileptogenesis.

2. The abnormal presence of ELOVL4 protein in POSs results in phagosomes that are defective in recruiting appropriate motor protein linkers, thus contributing to slower degradation because their altered motility results in slower basal migration and fewer productive encounters with endolysosomes.

3. ELOVL4 is significantly reduced in the diabetic retina.

4. mutations in the ELOVL4 gene lead to cone degeneration in humans, whereas mouse models expressing the mutant Elovl4 show predominant rod degeneration

5. 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.

6. ELOVL4 enzymatic activity is governed by individual histidines in its active site and the endoplasmic reticulum microenvironment.

7. 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.

8. expression and outer segment mislocalization of the disease-linked 5-base-pair deletion mutant ELOVL4 protein alters photoreceptor structure and function

9. The mosaic deletion of rod-expressed ELOVL4 protein resulted in a 36 % lower amount of very long chain-PUFA in the retinal phosphatidylcholine (PC) fraction compared to retinas from wild-type mice.

10. ELOVL4 was strongly expressed within the holocrine meibomian and sebaceous glands but no ELOVL4 was detected within the central meibomian duct.

11. 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.

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

13. the critical role of Elovl4 for proper rod or cone photoreceptor function

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

15. ELOVL4 protein is not involved in docosahexaenoic acid biosynthesis from the short chain fatty acid precursors 18:3n3 and 22:5n3.

16. deficit leads to the human STGD3 pathology.

17. The ELOVL4 gene is highly conserved throughout evolution and is expressed in the photoreceptor cells of the retina in a variety of different species

18. Elovl4 expression in developing retina follows a dynamic pattern. It switches from predominant ganglion cell expression in embryonic and early postnatal development to predominant expression in the photoreceptor inner segments

19. ELOVL4 may play an important role in embryonic development and in maintaining normal physiology of retina and brain at later stages of development

20. These findings demonstrate that ELOVL4 is required for generating very long-chain fatty acids critical for epidermal barrier function, and that the lack of epidermal omega-O-acylceramides is incompatible with survival in a desiccating environment.

Human ELOVL Fatty Acid Elongase 4 (ELOVL4) interaction partners

1. A highly reduced activity of the ELOVL4 promoter was registered due to combination of two variants. Decrease of ELOVL4 enzymatic activity could lead to a deficiency of VLC-PUFA, essential components for rods function and longevity, which are among the parameters involved in the etiopathogenesis of stargardt disease.

2. 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.

3. Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

4. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.

5. In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls.

6. 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.

7. different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review)

8. Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree.

9. In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.

10. 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.

11. ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family.

12. A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity.

13. Coexpression of different forms of wild-type and mutant ELOVL4 revealed a large dominant-negative effect of mutant protein on ELOVL4 localization and enzymatic activity, resulting in reduced VLC-PUFA synthesis.

14. 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in ELOVL4.

15. Mutation in ELOVL4 gene is associated with Stargardt Disease.

16. recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease

17. Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3.

18. There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population.

19. Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect.

20. Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.