Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
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Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapyHomo- and heterodimerization of peroxisomal ATP-binding cassette half-transportersMurine bubblegum orthologue is a microsomal very long-chain acyl-CoA synthetaseContiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersAltered expression of ALDP in X-linked adrenoleukodystrophyMutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypesProgression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations.ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsAdrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oilThe Arabidopsis pxa1 mutant is defective in an ATP-binding cassette transporter-like protein required for peroxisomal fatty acid beta-oxidationMouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophyMolecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetaseTherapy of X-linked adrenoleukodystrophyAdrenoleucodystrophy: a molecular genetic study in five families.Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.Peroxisomal dysfunction in inflammatory childhood white matter disorders: an unexpected contributor to neuropathologyColor vision defects in adrenomyeloneuropathy.HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes.Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Abnormality in catalase import into peroxisomes leads to severe neurological disorder.Peroxisomal acyl-CoA synthetasesX linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.The PAL1 gene product is a peroxisomal ATP-binding cassette transporter in the yeast Saccharomyces cerevisiaeCaffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes.Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases.Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblastsPerspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.The red-green visual pigment gene region in adrenoleukodystrophyRole of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy.Effect of hypoxia-reoxygenation on peroxisomal functions in cultured human skin fibroblasts from control and Zellweger syndrome patients.Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy.cDNA cloning and mRNA distribution of a mouse very long-chain acyl-CoA synthetase.Metabolism of saturated and polyunsaturated very-long-chain fatty acids in fibroblasts from patients with defects in peroxisomal beta-oxidation.Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders.Uptake and metabolism of plasma-derived erucic acid by rat brain.Postnatal development and isolation of peroxisomes from brain.Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
P2860
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P2860
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
description
1988 nî lūn-bûn
@nan
1988 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@ast
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@en
type
label
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@ast
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@en
prefLabel
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@ast
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@en
P2093
P2860
P356
P1476
Peroxisomal lignoceroyl-CoA li ...... phy and adrenomyeloneuropathy.
@en
P2093
P2860
P304
P356
10.1073/PNAS.85.20.7647
P407
P577
1988-10-01T00:00:00Z