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New insights in peroxisomal beta-oxidation
Ferdinandusse, S.
Publication date
2002
Link to publication
Citation for published version (APA):
Ferdinandusse, S. (2002). New insights in peroxisomal beta-oxidation.
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Listt of publications
Ferdinandusse,, S., Mulders, J., IJlst, L., Denis, S., Dacremont, G., Waterham, H.R. and Wanders,, RJ.A. Molecular cloning and expression of human carnitine octanoyltransferase (COT):: evidence for its role in the peroxisomal p-oxidation of branched-chain fatty acids. (1999)) Biochem. Biopbys. Res. Comm. 263, 213-218.
Ferdinandusse,, S., Denis, S., van Berkel, E., Dacremont, G. and Wanders, R.J.A. Peroxisomall fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activityy measurements in liver and fibroblasts using a newly developed method. (2000)
JLipidRes.JLipidRes. 41(3), 336-342.
Ferdinandusse,, S., Denis, S., Clayton, P.T., Graham, A., Rees, J.E., Allen, J.T., McLean, B.N.,, Brown, A.Y., Vreken, P., Waterham, H.R. and Wanders, RJ.A. Mutations in the gene encodingg peroxisomal a-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.. (2000) Nat.Genet. 24(2), 188-191.
Ferdinandusse,, S., Denis, S., IJlst, L., Dacremont, G., Waterham, H.R. and Wanders, RJ.A. Subcellularr localization and physiological role of a-methylacyl-CoA racemase. (2000)
J.J. Lipid Res. 41(11), 1890-1896.
Ferdinandusse,, S., Overmars, H., Denis, S., Waterham, H.R., Wanders, RJ.A. and Vreken,, P. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomall a-methylacyl-CoA racemase deficiency (2001)/. Lipid Res. 42(1), 137-141. Ferdinandusse,, S., Denis, S., Mooijer, P.A.W., Zhang, Z, Reddy, J.K., Spector, A.A. and Wanders,, RJ.A. Identification of the peroxisomal P-oxidation enzymes involved in the biosynthesiss of docosahexaenoic acid. (2001)/ Lipid Res. 42(12), 1987-1995.
Ferdinandusse,, S., Denis, S., Vreken, P., Waterham, H.R. and Wanders, RJ.A. (2001) 2-Methyll branched-chain fatty acid p-oxidation in peroxisomes and mitochondria and the rolee of 2-methylacyl-CoA racemase therein, in New Avenues of Research in Fatty Add
OxidationOxidation and Ketone Body Metabolism. (Simon Eaton & Parti A. Quant, eds.), pp. 51-57,
FAOXKK Press, London
Ferdinandusse,, S., Rusch, H., Van Lint, A.E.M., Dacremont, G., Wanders, R.J.A. and Vreken,, P. Stereochemistry of the peroxisomal branched-chain fatty acid a- and p-oxidationn systems in patients suffering from different peroxisomal disorders. (2002) / .. Lipid Res. 43(3), In press.
Ferdinandusse,, S., van Grunsven, E.G., Oostheim, W, Denis, S., Hogenhout, E.M., IJlst,, L., van Roermund, C.W.T., Waterham, H.R., Goldfischer, S. and Wanders, RJ.A. Reinvestigationn of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the truee defect at the level of D-bifunctional protein. Submitted for publication.
Jansen,, G.A., Ofman, R., Ferdinandusse, S., IJlst, L., Muijsers, T.O., Skjeldal, O.H., Stokke,, O., Jakobs, C , Besley, G.T.N., Wraith, J.E. and Wanders, RJ.A. Refsum disease is causedd by mutations in the phytanoyl-CoA hydroxylase gene. (1997) Nat. Genet. 17, 190-193. .
Jansen,, G.A., Ferdinandusse, S., Sjeldal O.H., Stokke, O., De Groot, C.J., Jakobs, C. and Wanders,, R.J.A. Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoAA hydroxylase cDNA. (1998)/ Inherit. Metab. Dis. 21, 288-291.
Jansen,, G.A., Ofman, R., Denis, S., Ferdinandusse, S., Hogenhout, E.M., Jakobs, C. and Wanders,, RJ.A. Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNAA cloning with implications for the subcellular localization of phytanic acid a-oxidation.. (1999)/. Lipid Res. 40(12), 2244-2254.
Jansen,, G.A., Ferdinandusse, S., Hogenhout, E.M., Verhoeven, N.M., Jakobs, C. and Wanders,, RJ.A. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basiss of classical Refsum disease. (1999) Adv. Exp. Med. Biol. 466, 371-376.
Jansen,, G.A., Hogenhout, E.M., Ferdinandusse, S., Waterham, H.R., Ofman, R., Jakobs, C ,, Skjeldal, O.H. and Wanders, RJ.A. Human phytanoyl-CoA hydroxylase: resolution of thee gene structure and the molecular basis of Refsum's disease. (2000) Hum. Mol Genet. 9(8),, 1195-1200.
Wanders,, R.J.A., Vreken, P., Ferdinandusse, S., Jansen, G.A., Waterham, H.R, Van Roermund,, C.W.T. and Van Grunsven, E.G. Peroxisomal fatty acid a- and fi-oxidation in humans:: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. (2001)) Biochem. Soc. Trans. 29(2), 250-267.
McLean,, B.N., Allen, J., Ferdinandusse, S. and Wanders, RJ.A. A new defect of peroxisomall function involving pristanic acid - a case report/. Neurol. Neurosurg. Psychiatry Acceptedd for publication.