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Article

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

Advances in experimental medicine and biology - 1 Jan 2016

Agbaga Martin-Paul

Abstract excerpt

All mammalian cell membranes are characterized by amphipathic lipid molecules that interact with proteins to confer structural and functional properties on the cell. The predominant lipid species are phospholipids, glycolipids, sphingolipids and cholesterol. These lipids contain fatty acids with variable hydrocarbon chain lengths between C14-C40, either saturated or unsaturated, that are derived from diet,...

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Eye Proteins
Fatty Acids
Fatty Acids, Unsaturated
Gene Expression
Macular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Nervous System Diseases

Organ Specificity

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Identifiers

PMID: 26427403
DOI: 10.1007/978-3-319-17121-0_18

Genes

ELOVL4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.PMID 26427403Read ↗

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Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.Semantic proximity Read ↗

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Current Progress in Deciphering Importance of VLC-PUFA in the Retina.Semantic proximity Read ↗

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.Semantic proximity Read ↗

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

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.Semantic proximity Read ↗

Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient miceSemantic proximity Read ↗

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.Semantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

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