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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.
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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.
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Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene
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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.
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In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls.
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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.
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different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review)
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Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree.
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In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.
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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.
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ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family.
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A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity.
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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.
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5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in ELOVL4.
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Mutation in ELOVL4 gene is associated with Stargardt Disease.
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recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease
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Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3.
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There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population.
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Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect.
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Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.