Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration - Wikidata - wikimedia - TriplyDB

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

http://www.wikidata.org/entity/Q34157723

about

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia STRA6: role in cellular retinol uptake and efflux Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport The lipid translocase, ABCA4: seeing is believing.Chemistry of the retinoid (visual) cycle Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.Role of membrane integrity on G protein-coupled receptors: Rhodopsin stability and function.Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions Gene Therapy of ABCA4-Associated Diseases.Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.Primary amines protect against retinal degeneration in mouse models of retinopathies.Photoreceptors at a glance.Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.Photoreceptor proteins initiate microglial activation via Toll-like receptor 4 in retinal degeneration mediated by all-trans-retinal.Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.Effective delivery of large genes to the retina by dual AAV vectors.Spatial organization of lipids in the human retina and optic nerve by MALDI imaging mass spectrometry.Lipid transport by mammalian ABC proteins.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Role of Lipids in Retinal Vascular and Macular Disorders.Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Constitutive phospholipid scramblase activity of a G protein-coupled receptor Expression of the 49 human ATP binding cassette (ABC) genes in pluripotent embryonic stem cells and in early- and late-stage multipotent mesenchymal stem cells: possible role of ABC plasma membrane transporters in maintaining human stem cell pluripo Dual AAV Vectors for Stargardt Disease.Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.

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Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

http://www.wikidata.org/entity/Q34157723

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Defective lipid transport and ...... Stargardt macular degeneration

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J.PLIPRES.2010.07.002

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Progress in Lipid Research

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Defective lipid transport and ...... Stargardt macular degeneration

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Kang Zhang

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Robert S Molday

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P2860

Cone rod dystrophies

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol

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

ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

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

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine

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10.1016/J.PLIPRES.2010.07.002

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