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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

http://www.wikidata.org/entity/Q26997806

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Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.Circadian and Dopaminergic Regulation of Fatty Acid Oxidation Pathway Genes in Retina and Photoreceptor Cells.Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1.Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders.Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism.Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.Quantitative proteomic study of myocardial mitochondria in urea transporter B knockout mice.Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

http://www.wikidata.org/entity/Q26997806

description

2012 nî lūn-bûn

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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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type

label

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@ast

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@en

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@nl

prefLabel

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@ast

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@en

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

@nl

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J.YMGME.2012.02.015

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Molecular Genetics and Metabolism

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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Autumn L Fletcher

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Cary O Harding

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Mark E Pennesi

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Richard G Weleber

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P2860

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

Combined enzyme defect of mitochondrial fatty acid oxidation

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant

EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein

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18-24

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10.1016/J.YMGME.2012.02.015

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1

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Melanie B Gillingham

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223994585

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