Associated Papers
Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.
Tamura Y et al.
Molecular and Cellular Biology, 2023
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM et al.
Genes, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
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
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
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
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
Mir H et al.
Bmc Medical Genetics, 2014
Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
Logan S et al.
Advances in Experimental Medicine and Biology, 2014
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
Production of ELOVL4 transgenic pigs: a large animal model for Stargardt-like macular degeneration.
Sommer JR et al.
The British Journal of Ophthalmology, 2011
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.
Molday RS et al.
Progress in Lipid Research, 2010
Genetics and molecular pathology of Stargardt-like macular degeneration.
Vasireddy V et al.
Progress in Retinal and Eye Research, 2010
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
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Maugeri A et al.
Investigative Ophthalmology & Visual Science, 2004
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