Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death
about
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humansRecessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegiaThe role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophyFunctional characterization of the Arabidopsis beta-ketoacyl-coenzyme A reductase candidates of the fatty acid elongaseFunctional roles of bestrophins in ocular epitheliaRecent advances in understanding ichthyosis pathogenesisRetinal remodeling in human retinitis pigmentosaKeratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant miceAge-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 geneTwo modes of regulation of the fatty acid elongase ELOVL6 by the 3-ketoacyl-CoA reductase KAR in the fatty acid elongation cycleRole of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acidsDual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formationA role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology.Regional changes in CNS and retinal glycerophospholipid profiles with age: a molecular blueprintDistribution of ELOVL4 in the Developing and Adult Mouse Brain.Effect of reduced retinal VLC-PUFA on rod and cone photoreceptorsEpidermal surface lipids.Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disksExamination of VLC-PUFA-deficient photoreceptor terminals.Retinal very long-chain PUFAs: new insights from studies on ELOVL4 proteinRetinal sphingolipids and their very-long-chain fatty acid-containing species.Genetic basis of inherited macular dystrophies and implications for stem cell therapy.Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophiesMetabolism of very long-chain Fatty acids: genes and pathophysiology.Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.Regulating survival and development in the retina: key roles for simple sphingolipids.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.Genetics and molecular pathology of Stargardt-like macular degeneration.Cooperative Synthesis of Ultra Long-Chain Fatty Acid and Ceramide during Keratinocyte Differentiation.Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.The role of fatty acid elongation in epidermal structure and function.Role of Elovl4 protein in the biosynthesis of docosahexaenoic acidDepletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient miceNrf2 links epidermal barrier function with antioxidant defenseThe role of group IIF-secreted phospholipase A2 in epidermal homeostasis and hyperplasiaThe acyl-CoA binding protein is required for normal epidermal barrier function in mice.A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholinesRole of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.Sphingosine-1-phosphate phosphatase 1 regulates keratinocyte differentiation and epidermal homeostasis
P2860
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P2860
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@ast
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@en
type
label
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@ast
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@en
prefLabel
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@ast
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@en
P2093
P2860
P356
P1476
Loss of functional ELOVL4 depl ...... skin leading to neonatal death
@en
P2093
Andrzej Dlugosz
Hiroko Hama
Johnie C Brown
Md Nawajesh Ali Mandal
Nathan L Alderson
Norman Salem
Peter M Elias
Radha Ayyagari
Ravi Bodepudi
Soo Yeon Kim
P2860
P304
P356
10.1093/HMG/DDL480
P50
P577
2007-01-05T00:00:00Z