Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.F265delFs
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ELOVL4

NM_022726.4:p.F265delFs

Associated Papers

Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.

Yeboah GK et al.

Journal of Lipid Research, 2021

ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.

Hopiavuori BR et al.

Progress in Retinal and Eye Research, 2019

Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.

Deák F et al.

Frontiers in Cellular Neuroscience, 2019

Animal modelling for inherited central vision loss.

Kostic C et al.

The Journal of Pathology, 2016

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.

Agbaga MP

Advances in Experimental Medicine and Biology, 2016

Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.

Harkewicz R et al.

The Journal of Biological Chemistry, 2012

Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies.

Liu A et al.

Clinical Lipidology, 2011

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.

Molday RS et al.

Progress in Lipid Research, 2010

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice.

Li W et al.

Vision Research, 2007

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.

Cameron DJ et al.

International Journal of Biological Sciences, 2007

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.

Grayson C et al.

The Journal of Biological Chemistry, 2005

Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.

Karan G et al.

Molecular Vision, 2005

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.

Vasireddy V et al.

Molecular Vision, 2005

Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy.

Lai Z et al.

Journal of Cellular and Molecular Medicine, 0

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