Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
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Identification of PEX7 as the second gene involved in Refsum diseaseThe critical role of Arabidopsis electron-transfer flavoprotein:ubiquinone oxidoreductase during dark-induced starvationA review of odd-chain fatty acid metabolism and the role of pentadecanoic Acid (c15:0) and heptadecanoic Acid (c17:0) in health and diseaseA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromePhytanic acid: measurement of plasma concentrations by gas-liquid chromatography-mass spectrometry analysis and associations with diet and other plasma fatty acidsMutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence.Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Alpha-methylacyl-CoA racemase--an 'obscure' metabolic enzyme takes centre stage.Synthesis and use of isotope-labelled substrates for a mechanistic study on human alpha-methylacyl-CoA racemase 1A (AMACR; P504S).Elevated alpha-methylacyl-CoA racemase enzymatic activity in prostate cancer.Refsum Disease Presenting with a Late-Onset LeukodystrophyFatty acid metabolism and arrhythmias.Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Alpha-methylacyl-CoA racemase deletion has mutually counteracting effects on T-cell responses, associated with unchanged course of EAE.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition.Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats.Isocitrate dehydrogenase of Plasmodium falciparum.Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease.Hearing loss in adult Refsum's disease.[Genetics of neuropathies].Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.Cochlear implantation in Refsum's disease.Characterization of the final step in the conversion of phytol into phytanic acid.Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria.Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.The stress-regulatory transcription factors Msn2 and Msn4 regulate fatty acid oxidation in budding yeast.Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.MRB7260 is essential for productive protein-RNA interactions within the RNA Editing Substrate Binding Complex during trypanosome RNA editing.The role of yeast m(6)A methyltransferase in peroxisomal fatty acid oxidation.SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.Cell proliferation inhibition and alterations in retinol esterification induced by phytanic acid and docosahexaenoic acid.Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation.Analysis of a range of catabolic mutants provides evidence that phytanoyl-coenzyme A does not act as a substrate of the electron-transfer flavoprotein/electron-transfer flavoprotein:ubiquinone oxidoreductase complex in Arabidopsis during dark-inducedDisorders of Keratinization
P2860
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P2860
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@ast
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@en
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@nl
type
label
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@ast
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@en
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@nl
prefLabel
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@ast
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@en
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@nl
P2093
P1476
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
@en
P2093
F Brian Gibberd
Matthew D Lloyd
Michael D Feher
P304
P356
10.1046/J.0022-3042.2002.00766.X
P407
P577
2002-03-01T00:00:00Z