Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. - Wikidata - awgldk - TriplyDB

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.

http://www.wikidata.org/entity/Q35568316

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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4 Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids A 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 disks Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies Genetics and molecular pathology of Stargardt-like macular degeneration.Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Mouse Models of Stargardt 3 Dominant Macular Degeneration Very long chain polyunsaturated fatty acids and rod cell structure and function.Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.Site-directed mutagenesis of a fatty acid elongase ELO-like condensing enzyme.Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.

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Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.

http://www.wikidata.org/entity/Q35568316

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2006 nî lūn-bûn

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Haploinsufficiency is not the ...... mouse model of STGD3 disease.

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Haploinsufficiency is not the ...... mouse model of STGD3 disease.

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Haploinsufficiency is not the ...... mouse model of STGD3 disease.

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Andrea L Webber

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Dorit Raz-Prag

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Konstantin Petrukhin

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Md Nawajes A Mandal

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Norman Salem

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Paul A Sieving

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Radha Ayyagari

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Robert N Fariss

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Ronald A Bush

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Sharon Majchrzak

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P2860

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4

Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

A simple method for the isolation and purification of total lipides from animal tissues

ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation.

Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation

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10.1167/IOVS.05-1527

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16877435

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haploinsufficiency

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