A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines
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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegiaTwo 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 acidsA study of phospholipids by ion mobility TOFMSDirect profiling of tissue lipids by MALDI-TOFMSA role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology.Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disksRetinal very long-chain PUFAs: new insights from studies on ELOVL4 proteinDefective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationLong-chain and very long-chain polyunsaturated fatty acids in ocular aging and age-related macular degenerationRole of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophiesGenetics and molecular pathology of Stargardt-like macular degeneration.Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.Role of Elovl4 protein in the biosynthesis of docosahexaenoic acidAdiponectin receptor 1 conserves docosahexaenoic acid and promotes photoreceptor cell survival.ELOVL4 protein preferentially elongates 20:5n3 to very long chain PUFAs over 20:4n6 and 22:6n3Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.Applications of mass spectrometry to lipids and membranesSerum levels of lipid metabolites in age-related macular degeneration.Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscinSpatial organization of lipids in the human retina and optic nerve by MALDI imaging mass spectrometry.Biosynthesis of Polyunsaturated Fatty Acids in Octopus vulgaris: Molecular Cloning and Functional Characterisation of a Stearoyl-CoA Desaturase and an Elongation of Very Long-Chain Fatty Acid 4 Protein.In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Mouse Models of Stargardt 3 Dominant Macular DegenerationHetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy.Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.
P2860
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P2860
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
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2007年學術文章
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name
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@ast
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@en
type
label
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@ast
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@en
prefLabel
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@ast
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@en
P2093
P2860
P1433
P1476
A Stargardt disease-3 mutation ...... -C36 acyl phosphatidylcholines
@en
P2093
Amina S Woods
Anne McMahon
Shelley N Jackson
Wojciech Kedzierski
P2860
P304
P356
10.1016/J.FEBSLET.2007.10.050
P407
P577
2007-11-05T00:00:00Z