ELOVL5 mutations cause spinocerebellar ataxia 38. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Co-transcribed genes for long chain polyunsaturated fatty acid biosynthesis in the protozoon Perkinsus marinus include a plant-like FAE1 3-ketoacyl coenzyme A synthase. Venegas-Calerón, M., Beaudoin, F., Sayanova, O. Extending the story of very-long-chain fatty acid elongation. Apicoplast and endoplasmic reticulum cooperate in fatty acid biosynthesis in apicomplexan parasite Toxoplasma gondii. A fatty-acid synthesis mechanism specialized for parasitism. ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. Isolation and characterization of a gene affecting fatty acid elongation in Saccharomyces cerevisiae. Fatty acid elongases in mammals: their regulation and roles in metabolism. insights into molecular changes leading to hepatopathy. A critical role for ceramide synthase 2 in liver homeostasis: II. Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.
ALPHA HELIX ER LUMEN SKIN
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice. Impaired epidermal permeability barrier in mice lacking Elovl1, the gene responsible for very-long-chain fatty acid production. Reduced chain length in myelin sphingolipids and poorer motor coordination in mice deficient in the fatty acid elongase Elovl1. Isokawa, M., Sassa, T., Hattori, S., Miyakawa, T. Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomas. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. Metabolism of very long-chain fatty acids: genes and pathophysiology. The unusual substrate-binding arrangement and chemistry suggest mechanisms for selective ELOVL inhibition, relevant for diseases where VLCFAs accumulate, such as X-linked adrenoleukodystrophy.
We demonstrate that chain elongation proceeds via an acyl-enzyme intermediate involving the second histidine in the canonical HxxHH motif. The structure reveals the substrate-binding sites in the narrow tunnel and an active site deep in the membrane. Here we report the structure of the human ELOVL7 elongase, which comprises an inverted transmembrane barrel surrounding a 35-Å long tunnel containing a covalently attached product analogue. Although ELOVLs are implicated in common diseases, including insulin resistance, hepatic steatosis and Parkinson’s, their underlying molecular mechanisms are unknown. The first step in the fatty acid elongation cycle is catalyzed by the 3-keto acyl-coenzyme A (CoA) synthases (in mammals, ELOVL elongases).
Very long chain fatty acids (VLCFAs) are essential building blocks for the synthesis of ceramides and sphingolipids.
0 kommentar(er)
