Ferdinandusse S - Search Results

1

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A. Helman G, et al. Among authors: ferdinandusse s. Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7. Ann Clin Transl Neurol. 2020. PMID: 31912665 Free PMC article.

2

Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.

Ferdinandusse S, Mulders J, IJlst L, Denis S, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Biochem Biophys Res Commun. 1999 Sep 16;263(1):213-8. doi: 10.1006/bbrc.1999.1340. Biochem Biophys Res Commun. 1999. PMID: 10486279

3

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Nat Genet. 2000 Feb;24(2):188-91. doi: 10.1038/72861. Nat Genet. 2000. PMID: 10655068

4

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ. Jansen GA, et al. Among authors: ferdinandusse s. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344

5

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. J Lipid Res. 2000 Nov;41(11):1890-6. J Lipid Res. 2000. PMID: 11060359 Free article.

6

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P. Ferdinandusse S, et al. J Lipid Res. 2001 Jan;42(1):137-41. J Lipid Res. 2001. PMID: 11160375 Free article.

Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic acid (DHCA and THCA), which are all substrates for the peroxisomal beta-oxidation system. alpha-Methylacyl-CoA racemase plays an important role …

Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic aci …

7

Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.

Wanders RJ, Vreken P, Ferdinandusse S, Jansen GA, Waterham HR, van Roermund CW, Van Grunsven EG. Wanders RJ, et al. Among authors: ferdinandusse s. Biochem Soc Trans. 2001 May;29(Pt 2):250-67. doi: 10.1042/0300-5127:0290250. Biochem Soc Trans. 2001. PMID: 11356164 Review.

8

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.

Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ. Ferdinandusse S, et al. Am J Hum Genet. 2002 Jun;70(6):1589-93. doi: 10.1086/340970. Epub 2002 Apr 23. Am J Hum Genet. 2002. PMID: 11992265 Free PMC article.

9

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

Wanders RJ, van Roermund CW, Visser WF, Ferdinandusse S, Jansen GA, van den Brink DM, Gloerich J, Waterham HR. Wanders RJ, et al. Among authors: ferdinandusse s. Adv Exp Med Biol. 2003;544:293-302. doi: 10.1007/978-1-4419-9072-3_37. Adv Exp Med Biol. 2003. PMID: 14713243 Review. No abstract available.

10

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR. Ferdinandusse S, et al. Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535. Hum Mutat. 2007. PMID: 17458872

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