[The diagnostic of peroxisomic diseases in children].

Klinicheskaia laboratornaia diagnostika 20120301

Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.

Journal of clinical apheresis 20120101

Morphology of 1-methyl-1-nitrosourea induced rat mammary tumours after treatment with precursor of phytanic acid or its combination with vitamin D analogue.

Endocrine regulations 20120101

Chance and serendipity in science: two examples from my own career.

The Journal of biological chemistry 20111104

Phytanic acid metabolism in health and disease.

Biochimica et biophysica acta 20110901

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-induced senescence.

Plant physiology 20110901

Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40.

Neurobiology of disease 20110801

AMACR polymorphisms, dietary intake of red meat and dairy and prostate cancer risk.

The Prostate 20110401

Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.

Journal of obesity 20110101

Effect of dairy fat on plasma phytanic acid in healthy volunteers - a randomized controlled study.

Lipids in health and disease 20110101

Peroxisomal biogenesis disorder biomarkers.

Clinical laboratory 20110101

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice.

PloS one 20110101

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.

Journal of lipid research 20101001

In vitro evidence that phytanic acid compromises Na(+),K(+)-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats.

Brain research 20100917

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease.

Journal of neurology, neurosurgery, and psychiatry 20100901

Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats.

Life sciences 20100828

Plasma phytanic acid concentration and risk of prostate cancer: results from the European Prospective Investigation into Cancer and Nutrition.

The American journal of clinical nutrition 20100601

Lanthanide phytanates: liquid-crystalline phase behavior, colloidal particle dispersions, and potential as medical imaging agents.

Langmuir : the ACS journal of surfaces and colloids 20100504

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Molecular genetics and metabolism 20100401

Use of polystyrene-supported 2-isobutoxy-1-isobutoxycarbonyl-1,2-dihydroquinoline for the preparation of a hapten-protein conjugate for antibody development.

Bioorganic & medicinal chemistry letters 20100301

Phytanic acid--an overlooked bioactive fatty acid in dairy fat?

Annals of the New York Academy of Sciences 20100301

Compartmentalization of the Edinburgh Human Metabolic Network.

BMC bioinformatics 20100101

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.

Survey of ophthalmology 20100101

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions.

BMC physiology 20100101

Biochemical and structural characterization of CYP124: a methyl-branched lipid omega-hydroxylase from Mycobacterium tuberculosis.

Proceedings of the National Academy of Sciences of the United States of America 20091208

The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes.

Neurobiology of disease 20091101

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Journal of inherited metabolic disease 20090201

Phytol-induced hepatotoxicity in mice.

Toxicologic pathology 20090101

Identification of marker genes for lipid-lowering effect of a short-chain fructooligosaccharide by DNA microarray analysis.

Journal of dietary supplements 20090101

Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders.

Journal of lipid research 20080801

Comment concerning the article: 'Phytanic acid impairs mitochondrial respiration through protonophoric action' by Komen et al.: branched chain phytanic acid inhibits the activity of the mitochondrial respiratory chain.

Cellular and molecular life sciences : CMLS 20080701

Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 20080601

Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.

Journal of the neurological sciences 20080315

Phytanic acid: measurement of plasma concentrations by gas-liquid chromatography-mass spectrometry analysis and associations with diet and other plasma fatty acids.

The British journal of nutrition 20080301

Plasmalogen levels in Gaucher disease.

Blood cells, molecules & diseases 20080101

Dietary fat-gene interactions in cancer.

Cancer metastasis reviews 20071201

Phytanic acid impairs mitochondrial respiration through protonophoric action.

Cellular and molecular life sciences : CMLS 20071201

Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid.

Biochemical Society transactions 20071101

Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.

Biochemical Society transactions 20071101

Peroxisomes contain a specific phytanoyl-CoA/pristanoyl-CoA thioesterase acting as a novel auxiliary enzyme in alpha- and beta-oxidation of methyl-branched fatty acids in mouse.

The Journal of biological chemistry 20070914

Dual subcellular localization in the endoplasmic reticulum and peroxisomes and a vital role in protecting against oxidative stress of fatty aldehyde dehydrogenase are achieved by alternative splicing.

The Journal of biological chemistry 20070713

Effect of SCP-x gene ablation on branched-chain fatty acid metabolism.

American journal of physiology. Gastrointestinal and liver physiology 20070301

Cell proliferation inhibition and alterations in retinol esterification induced by phytanic acid and docosahexaenoic acid.

Journal of lipid research 20070101

PPARs in the Control of Uncoupling Proteins Gene Expression.

PPAR research 20070101

Alpha-oxidation.

Biochimica et biophysica acta 20061201

Refsum's disease may mimic familial Guillain Barre syndrome.

Neuromuscular disorders : NMD 20061101

CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease.

The Journal of pharmacology and experimental therapeutics 20060801

Phytanic acid: production from phytol, its breakdown and role in human disease.

Cellular and molecular life sciences : CMLS 20060801

Identification of the cytochrome P450 enzymes responsible for the omega-hydroxylation of phytanic acid.

FEBS letters 20060710

A study of the cytotoxicity of branched-chain phytanic acid with mitochondria and rat brain astrocytes.

Experimental gerontology 20060701

Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies?

Cellular and molecular life sciences : CMLS 20060701

Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid.

FEBS letters 20060612

Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation.

FEBS letters 20060403

Phytanic acid, AMACR and prostate cancer risk.

Future oncology (London, England) 20060401

Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria.

The Journal of biological chemistry 20060317

Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20060101

[alpha-Oxidation of 3-methyl-branched fatty acids: unraveling of a pathway].

Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie 20060101

Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.

The Journal of biological chemistry 20051209

Phytol directly activates peroxisome proliferator-activated receptor alpha (PPARalpha) and regulates gene expression involved in lipid metabolism in PPARalpha-expressing HepG2 hepatocytes.

Biochemical and biophysical research communications 20051118

Serum levels of phytanic acid are associated with prostate cancer risk.

The Journal of urology 20051101

[Adult Refsum disease. A retinal dystrophy with therapeutic options].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 20050801

Characterization of the final step in the conversion of phytol into phytanic acid.

The Journal of biological chemistry 20050722

Characterization of phytanic acid omega-hydroxylation in human liver microsomes.

Molecular genetics and metabolism 20050701

[Refsum's disease with severe neuropathy: efficiency of the diet and plasmapheresis].

La Revue de medecine interne 20050601

Serum levels of phytanic acid are associated with prostate cancer risk.

The Prostate 20050515

Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanoyl-CoA lyase: a revised pathway for the alpha-oxidation of straight chain fatty acids.

The Journal of biological chemistry 20050318

The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes.

Neurobiology of disease 20050201

A study on the causes for the elevated n-3 fatty acids in cows' milk of alpine origin.

Lipids 20050201

Up-regulation of PPARgamma coactivator-1alpha as a strategy for preventing and reversing insulin resistance and obesity.

Medical hypotheses 20050101

Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.

Clinical chemistry 20050101

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

Journal of inherited metabolic disease 20050101

A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome.

Journal of inherited metabolic disease 20050101

Clinical significance of oxidation from phytol to phytanic acid in man.

Molecular genetics and metabolism 20041201

Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands.

Archives of toxicology 20041101

Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice.

Journal of cardiovascular electrophysiology 20041101

In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition.

The Biochemical journal 20041001

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

Neurology 20040713

Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.

Journal of lipid research 20040701

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.

Molecular genetics and metabolism 20040701

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.

Neurology 20040608

Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.

Molecular genetics and metabolism 20040501

Liver fatty acid binding protein expression enhances branched-chain fatty acid metabolism.

Molecular and cellular biochemistry 20040401

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Human mutation 20040301

Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20031205

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?

Journal of lipid research 20031201

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.

Brain & development 20031001

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Human molecular genetics 20030915

Sterol carrier protein-2/sterol carrier protein-x expression differentially alters fatty acid metabolism in L cell fibroblasts.

Journal of lipid research 20030901

The chemical biology of branched-chain lipid metabolism.

Progress in lipid research 20030901

Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease.

Journal of lipid research 20030801

Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 20030801

Branched fatty acids in dairy and beef products markedly enhance alpha-methylacyl-CoA racemase expression in prostate cancer cells in vitro.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 20030801

Hearing loss in adult Refsum's disease.

Clinical otolaryngology and allied sciences 20030601

Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence.

European journal of biochemistry 20030401

Phytanic acid alpha-oxidation, new insights into an old problem: a review.

Biochimica et biophysica acta 20030317

Identification of PEX7 as the second gene involved in Refsum disease.

American journal of human genetics 20030201

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Advances in experimental medicine and biology 20030101

Phytanic and pristanic acid are naturally occuring ligands.

Advances in experimental medicine and biology 20030101

Role of phytanoyl-CoA 2-hydroxylase in phytanic acid metabolism.

Advances in experimental medicine and biology 20030101

Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells.

The Journal of biological chemistry 20021220

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Neurology 20021210

Expression of fatty acid binding proteins inhibits lipid accumulation and alters toxicity in L cell fibroblasts.

American journal of physiology. Cell physiology 20020901

The chlorophyll-derived metabolite phytanic acid induces white adipocyte differentiation.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 20020901

[Refsum disease].

Nihon rinsho. Japanese journal of clinical medicine 20020901

Phytanic acid, a natural peroxisome proliferator-activated receptor (PPAR) agonist, regulates glucose metabolism in rat primary hepatocytes.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20020501

Glucuronidation of the dietary fatty acids, phytanic acid and docosahexaenoic acid, by human UDP-glucuronosyltransferases.

Drug metabolism and disposition: the biological fate of chemicals 20020501

Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid.

Chemistry & biology 20020501

Phytanic acid, but not pristanic acid, mediates the positive effects of phytol derivatives on brown adipocyte differentiation.

FEBS letters 20020424

Photoaffinity labeling of human retinoid X receptor beta (RXRbeta) with 9-cis-retinoic acid: identification of phytanic acid, docosahexaenoic acid, and lithocholic acid as ligands for RXRbeta.

Biochemistry 20020416

Prevention of vitamin A teratogenesis by phytol or phytanic acid results from reduced metabolism of retinol to the teratogenic metabolite, all-trans-retinoic acid.

Toxicological sciences : an official journal of the Society of Toxicology 20020401

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.

Journal of lipid research 20020301

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.

Journal of neurochemistry 20020301

Phytanic acid, a novel activator of uncoupling protein-1 gene transcription and brown adipocyte differentiation.

The Biochemical journal 20020215

[Refsum's disease: evolution 35 years after diagnosis].

Revue neurologique 20020201

Peroxisomal fatty acid oxidation and cellular redox.

Methods in enzymology 20020101

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease.

Clinical science (London, England : 1979) 20011201

Human metabolism of phytanic acid and pristanic acid.

Progress in lipid research 20011101

Refsum disease, peroxisomes and phytanic acid oxidation: a review.

Journal of neuropathology and experimental neurology 20011101

Phytanic acid and docosahexaenoic acid increase the metabolism of all-trans-retinoic acid and CYP26 gene expression in intestinal cells.

Biochimica et biophysica acta 20011031

Studies on phytanoyl-CoA 2-hydroxylase and synthesis of phytanoyl-coenzyme A.

Bioorganic & medicinal chemistry letters 20010917

Refsum's disease.

QJM : monthly journal of the Association of Physicians 20010801

Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes.

Biochemical and biophysical research communications 20010511

[Refsum disease].

Nihon rinsho. Japanese journal of clinical medicine 20010301

The chlorophyll metabolite phytanic acid is a natural rexinoid--potential for treatment and prevention of diabetes.

Medical hypotheses 20010201

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.

Journal of molecular neuroscience : MN 20010101

Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha.

Journal of lipid research 20001101

Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein.

Journal of lipid research 19990401

Phytanic acid is a retinoid X receptor ligand.

European journal of biochemistry 19960215