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Showing 1-30 of 37 results for "52200" within Papers
Marc Engelen et al.
Journal of inherited metabolic disease, 35(6), 1137-1145 (2012-03-27)
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane. ALDP deficiency results in impaired peroxisomal β-oxidation and the subsequent accumulation of very long-chain fatty acids (VLCFA; >
Hugo W Moser et al.
Archives of neurology, 62(7), 1073-1080 (2005-07-13)
To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression. Eighty-nine boys (mean +/- SD baseline age, 4.7 +/- 4.1
Lovastatin in X-linked adrenoleukodystrophy.
Marc Engelen et al.
The New England journal of medicine, 362(3), 276-277 (2010-01-22)
Oswald Quehenberger et al.
Journal of lipid research, 51(11), 3299-3305 (2010-07-31)
The focus of the present study was to define the human plasma lipidome and to establish novel analytical methodologies to quantify the large spectrum of plasma lipids. Partial lipid analysis is now a regular part of every patient's blood test
Walter C Hubbard et al.
Molecular genetics and metabolism, 89(1-2), 185-187 (2006-07-11)
Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess of lysophosphatidyl choline containing hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with
A Sadeghi-Nejad et al.
The New England journal of medicine, 322(1), 13-16 (1990-01-04)
Adrenoleukodystrophy, a sex-linked peroxisomal disorder that results in the impaired oxidation of long-chain saturated fatty acids and causes neurologic impairment, is a rare cause of Addison's disease in children. Adrenomyeloneuropathy is the name given to a biochemically identical but milder
Marion Deon et al.
Journal of the neurological sciences, 247(2), 157-164 (2006-06-06)
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder biochemically characterized by the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C(26:0)) and tetracosanoic acid (C(24:0)), in tissues and biological fluids. Although patients affected by this disorder predominantly present
Wei-Yi Hsu et al.
Analytical chemistry, 82(16), 6814-6820 (2010-08-14)
Peroxisomal disorders are characterized biochemically by elevated levels of very long chain fatty acids (VLCFAs) in serum. Herein, we describe a novel approach for quantification of VLCFAs in serum, namely, eicosanoic acid (C20:0), docosanoic acid (C22:0), tetracosanoic acid (C24:0), and
P A Watkins et al.
The Journal of clinical investigation, 83(3), 771-777 (1989-03-01)
Peroxisomal function was evaluated in a male infant with clinical features of neonatal adrenoleukodystrophy. Very long chain fatty acid levels were elevated in both plasma and fibroblasts, and beta-oxidation of very long chain fatty acids in cultured fibroblasts was significantly
Stéphane Fourcade et al.
Human molecular genetics, 17(12), 1762-1773 (2008-03-18)
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder, characterized by progressive cerebral demyelination cerebral childhood adrenoleukodystrophy (CCALD) or spinal cord neurodegeneration (adrenomyeloneuropathy, AMN), adrenal insufficiency and accumulation of very long-chain fatty acids (VLCFA) in tissues. The disease is caused by
Nicol Kruska et al.
Biochimica et biophysica acta, 1852(5), 925-936 (2015-01-15)
X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder resulting from defective ABCD1 transport protein. ABCD1 mediates peroxisomal uptake of free very-long-chain fatty acids (VLCFA) as well as their CoA-esters. Consequently, VLCFA accumulate in patients' plasma and tissues, which is considered
M Cappa et al.
Journal of endocrinological investigation, 34(10), 753-756 (2011-03-15)
X-linked adrenoleukodystrophy/adrenomieloneuropathy (ALD/AMN) is a progressive neurodegenerative disorder due to mutations in the ABCD1 gene encoding the ABC transporter ALDP. Mutations in ALDP impair peroxisomal β-oxidation of very long chain fatty acids (VLCFA), resulting in elevated levels of VLCFA in
Wen Tang et al.
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals, 19(6), 505-508 (2014-08-01)
To investigate phospholipids (PLs) biomarkers in predicting outcome of patients undergoing peritoneal dialysis (PD). Twenty PD patients were followed using baseline plasma PLs with an improved online two-dimensional liquid chromatography-quadrupole time-of-flight mass spectrometry system. Significant differences were observed in eight
Erwin Kaal et al.
Journal of chromatography. A, 1216(35), 6319-6325 (2009-07-28)
A fast gas chromatography-mass spectrometry (GC-MS) method with minimum sample preparation is described for early diagnosis of tuberculosis (TB). The automated procedure is based on the injection of sputum samples which are then methylated inside the GC injector using thermally
Rita Di Benedetto et al.
Neurochemistry international, 52(6), 1106-1113 (2008-01-08)
The function of PMP70, one of the four ABC half-transporters of mammalian peroxisomes, encoded by ABCD3 gene, is still unclear. The finding that PMP70 over-expression partially corrected very long-chain fatty acid oxidation defects in fibroblasts of X-linked adrenoleukodystrophy patients, has
Tomás Rezanka et al.
Progress in lipid research, 48(3-4), 206-238 (2009-04-02)
Very long chain fatty acids (FAs) are important components of different classes of lipids in all organisms from bacteria to man. They include also, usually as minor components, odd-numbered FAs. These have so far been given little attention because of
Kristel Kodar et al.
Chembiochem : a European journal of chemical biology, 16(4), 683-693 (2015-02-04)
Trehalose glycolipids play an important role in the pathogenesis of Mycobacterium tuberculosis and are used as adjuvants for vaccines; however, much still remains unanswered about the mechanisms through which these glycolipids exert their immunomodulatory potential. Recently, the macrophage-inducible C-type lectin
Yanjing Bai et al.
Journal of natural medicines, 65(3-4), 417-423 (2011-02-09)
Not only neuronal death but also neuritic atrophy and synaptic loss underlie the pathogenesis of Alzheimer's disease as direct causes of the memory deficit. Extracts of Siberian ginseng (the rhizome of Eleutherococcus senticosus) were shown to have protective effects on
H I El Hajj et al.
Endocrinology, 153(6), 2568-2575 (2012-04-18)
Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and inflammatory demyelination. However, the components of this inflammatory process in
Atsumi Kume et al.
Diabetes research and clinical practice, 80(2), 259-264 (2008-02-05)
Hexacosanoic acid (C26:0) is a saturated very long-chain fatty acid and high levels of C26:0 in red blood cells are reported to be closely related with risk factors of atherosclerosis. However, the relationship between absolute levels of C26:0 in whole
Ana C Matias et al.
Free radical biology & medicine, 43(10), 1458-1465 (2007-10-16)
Changes in plasma membrane permeability caused by H2O2 were recently found to be involved in the adaptation to H2O2, but the mechanism responsible for this change remains largely unknown. Here this mechanism was addressed and two lines of evidence showed
Tang-Chia Chung et al.
Analytica chimica acta, 611(1), 113-118 (2008-02-27)
Docosanoic (C22), tetracosanoic (C24) and hexacosanoic (C26) acids are saturated very-long-chain fatty acids (VLCFA) present at trace levels in biosamples. VLCFA can be used as potential biomarkers for the diagnosis of hereditary diseases such as X-linked adrenoleukodystrophy. Because the analytes
M Aasim Khan et al.
Natural product research, 24(7), 610-620 (2010-04-20)
Phytochemical investigation of the fruit peels of Citrus reticulata Blanco (Rutaceae) resulted in the isolation of three new phytoconstituents along with n-hexacosonoic acid. Their structures have been established as 18betaH-urs-5,11-dien-3beta-ol-11-one-3beta-D-glucopyranosyl-(4'-->1'')-D-glucopyranosyl-6''-(3''',4'''-dihydroxyl)-benzoate (reticulataursenoside), stigmast-5-en-3beta-ol-3beta-D-glucopyranosyl-4'-eicosanoate (citrusteryl arachidate), and lanost-5-en-3beta-ol-3beta-D-glucopyranosyl-4'-eicosanoate (citruslanosteroside) on the basis
Laura Bannach Jardim et al.
Brain & development, 32(3), 180-190 (2009-03-10)
X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. To describe the clinical course of affected male patients from South
Gursev S Dhaunsi et al.
Cell biochemistry and function, 23(1), 65-68 (2004-11-27)
Very long chain fatty acids (VLCFAs) are exclusively oxidized in peroxisomes and their levels are significantly increased in tissues of patients with peroxisomal disorders. Although the biochemical indicators of peroxisomal dysfunction, such as elevated VLCFAs, are well known, the mechanisms
Biju K Pillai et al.
The Journal of biological chemistry, 284(48), 33296-33304 (2009-10-06)
Abnormalities in the transport of saturated very long chain fatty acids (VLCFA; >C18:0) contribute to their toxic levels in peroxisomal disorders of fatty acid metabolism, such as adrenoleukodystrophy and adrenomyeloneuropathy. We previously showed that VLCFA desorb much slower than normal
A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy.
P Aubourg et al.
The New England journal of medicine, 329(11), 745-752 (1993-09-09)
Adrenomyeloneuropathy is an X-linked recessive disorder characterized by myelopathy, peripheral neuropathy, and cerebral demyelination, which develop in association with the accumulation of very-long-chain fatty acids. The administration of oleic and erucic acids inhibits the synthesis of very-long-chain fatty acids. Recently
Pedro Brites et al.
Brain : a journal of neurology, 132(Pt 2), 482-492 (2008-11-22)
Peroxisomes are organelles responsible for multiple metabolic pathways including, the biosynthesis of plasmalogens, a class of phospholipids, and the beta-oxidation of very-long-chain fatty acids (VLCFA). Lack of peroxisomes or dysfunction in any of their normal functions is the cellular basis
Aya Okahashi et al.
Clinica chimica acta; international journal of clinical chemistry, 401(1-2), 141-143 (2009-01-13)
Fatty acid metabolism has a close relationship with metabolic syndrome. Saturated very long-chain fatty acid (hexacosanoic acid; C26:0) was recently reported to be associated with cardiovascular risk factors in adults. Eighty-eight children (47 male, 41 female; average age, 10.9 y)
Alastair Wilkins et al.
Multiple sclerosis (Houndmills, Basingstoke, England), 15(12), 1525-1527 (2009-12-08)
In clinical practice it is not uncommon for patients with adrenomyeloneuropathy or female carriers of adrenoleucodystrophy to have a presenting history and examination compatible with multiple sclerosis. This suggests that there may be an under-diagnosis of adrenoleucodystrophy and its variants
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