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Items: 1 to 50 of 60

1.

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Berendse K, Boek M, Gijbels M, Van der Wel NN, Klouwer FC, van den Bergh-Weerman MA, Shinde AB, Ofman R, Poll-The BT, Houten SM, Baes M, Wanders RJA, Waterham HR.

Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2774-2787. doi: 10.1016/j.bbadis.2019.06.013. Epub 2019 Jun 15.

2.

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

Meijer OLM, van den Biggelaar P, Ofman R, Wijburg FA, van Vlies N.

JIMD Rep. 2018;39:97-106. doi: 10.1007/8904_2017_51. Epub 2017 Aug 24.

3.

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

Meijer OLM, Te Brinke H, Ofman R, IJlst L, Wijburg FA, van Vlies N.

Mol Genet Metab. 2017 Sep;122(1-2):100-106. doi: 10.1016/j.ymgme.2017.07.005. Epub 2017 Jul 12.

PMID:
28751108
4.

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.

van de Beek MC, Ofman R, Dijkstra I, Wijburg F, Engelen M, Wanders R, Kemp S.

Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2255-2265. doi: 10.1016/j.bbadis.2017.06.003. Epub 2017 Jun 27.

5.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS.

Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152.

6.

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

van Engen CE, Ofman R, Dijkstra IM, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJ, Aubourg P, Kemp S, Barbier M.

Biochim Biophys Acta. 2016 Oct;1862(10):1861-70. doi: 10.1016/j.bbadis.2016.07.006. Epub 2016 Jul 15.

7.

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

van de Beek MC, Dijkstra IM, van Lenthe H, Ofman R, Goldhaber-Pasillas D, Schauer N, Schackmann M, Engelen-Lee JY, Vaz FM, Kulik W, Wanders RJ, Engelen M, Kemp S.

PLoS One. 2016 Apr 28;11(4):e0154597. doi: 10.1371/journal.pone.0154597. eCollection 2016.

8.

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S.

Mol Genet Metab. 2016 Jun;118(2):123-7. doi: 10.1016/j.ymgme.2016.03.009. Epub 2016 Apr 3.

PMID:
27067449
9.

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL.

Mitochondrion. 2015 Mar;21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6.

10.

Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.

Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ, Kemp S.

Biochim Biophys Acta. 2015 Feb;1851(2):231-7. doi: 10.1016/j.bbalip.2014.12.005. Epub 2014 Dec 11.

PMID:
25499606
11.

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Pougovkina O, te Brinke H, Ofman R, van Cruchten AG, Kulik W, Wanders RJ, Houten SM, de Boer VC.

Hum Mol Genet. 2014 Jul 1;23(13):3513-22. doi: 10.1093/hmg/ddu059. Epub 2014 Feb 10.

PMID:
24516071
12.

Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase.

van Weeghel M, Ofman R, Argmann CA, Ruiter JP, Claessen N, Oussoren SV, Wanders RJ, Aten J, Houten SM.

FASEB J. 2014 Mar;28(3):1365-74. doi: 10.1096/fj.13-240416. Epub 2013 Dec 16.

PMID:
24344334
13.

Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".

Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll-The BT, Kemp S.

Clin Neurol Neurosurg. 2013 Nov;115(11):2401-2. doi: 10.1016/j.clineuro.2013.07.040. Epub 2013 Aug 22. No abstract available.

PMID:
24018110
14.

Intellectual disability and hemizygous GPD2 mutation.

Barge-Schaapveld DQ, Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RC.

Am J Med Genet A. 2013 May;161A(5):1044-50. doi: 10.1002/ajmg.a.35873. Epub 2013 Mar 29.

PMID:
23554088
15.

The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey.

Gronemeyer T, Wiese S, Ofman R, Bunse C, Pawlas M, Hayen H, Eisenacher M, Stephan C, Meyer HE, Waterham HR, Erdmann R, Wanders RJ, Warscheid B.

PLoS One. 2013;8(2):e57395. doi: 10.1371/journal.pone.0057395. Epub 2013 Feb 27. Erratum in: PLoS One. 2013;8(10). doi:10.1371/annotation/3552e5c7-88d1-42c5-844d-4c2f2d722533.

16.

Bezafibrate for X-linked adrenoleukodystrophy.

Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S.

PLoS One. 2012;7(7):e41013. doi: 10.1371/journal.pone.0041013. Epub 2012 Jul 20.

17.

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S.

J Inherit Metab Dis. 2012 Nov;35(6):1137-45. doi: 10.1007/s10545-012-9471-4. Epub 2012 Mar 24.

18.

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.

Luís PB, Ruiter JP, Ofman R, Ijlst L, Moedas M, Diogo L, Garcia P, de Almeida IT, Duran M, Wanders RJ, Silva MF.

Biochem Pharmacol. 2011 Dec 1;82(11):1740-6. doi: 10.1016/j.bcp.2011.07.103. Epub 2011 Aug 6.

PMID:
21843514
19.

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

Zhang X, De Marcos Lousa C, Schutte-Lensink N, Ofman R, Wanders RJ, Baldwin SA, Baker A, Kemp S, Theodoulou FL.

Biochem J. 2011 Jun 15;436(3):547-57. doi: 10.1042/BJ20110249.

PMID:
21476988
20.

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S.

EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061.

21.

Lovastatin in X-linked adrenoleukodystrophy.

Engelen M, Ofman R, Dijkgraaf MG, Hijzen M, van der Wardt LA, van Geel BM, de Visser M, Wanders RJ, Poll-The BT, Kemp S.

N Engl J Med. 2010 Jan 21;362(3):276-7. doi: 10.1056/NEJMc0907735. No abstract available.

PMID:
20089986
22.

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.

Sanders RJ, Ofman R, Dekker C, Kemp S, Wanders RJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Feb 1;877(4):451-5. doi: 10.1016/j.jchromb.2008.12.040. Epub 2008 Dec 25.

PMID:
19124283
23.

The nudix hydrolase 7 is an Acyl-CoA diphosphatase involved in regulating peroxisomal coenzyme A homeostasis.

Reilly SJ, Tillander V, Ofman R, Alexson SE, Hunt MC.

J Biochem. 2008 Nov;144(5):655-63. doi: 10.1093/jb/mvn114. Epub 2008 Sep 17.

PMID:
18799520
24.

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.

Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S.

Biochim Biophys Acta. 2008 Mar;1781(3):105-11. doi: 10.1016/j.bbalip.2007.12.003. Epub 2007 Dec 28.

PMID:
18206987
25.

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids.

Sanders RJ, Ofman R, Dacremont G, Wanders RJ, Kemp S.

FASEB J. 2008 Jun;22(6):2064-71. doi: 10.1096/fj.07-099150. Epub 2008 Jan 8.

PMID:
18182499
26.

Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis.

van Vlies N, Ofman R, Wanders RJ, Vaz FM.

FEBS J. 2007 Nov;274(22):5845-51. Epub 2007 Oct 18.

27.

Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling.

Wiese S, Gronemeyer T, Ofman R, Kunze M, Grou CP, Almeida JA, Eisenacher M, Stephan C, Hayen H, Schollenberger L, Korosec T, Waterham HR, Schliebs W, Erdmann R, Berger J, Meyer HE, Just W, Azevedo JE, Wanders RJ, Warscheid B.

Mol Cell Proteomics. 2007 Dec;6(12):2045-57. Epub 2007 Sep 2.

28.

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ.

Am J Hum Genet. 2007 Jan;80(1):195-9. Epub 2006 Nov 30.

29.

Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.

Sanders RJ, Ofman R, Duran M, Kemp S, Wanders RJ.

J Biol Chem. 2006 May 12;281(19):13180-7. Epub 2006 Mar 17.

30.

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

Gloerich J, Ruiter JP, van den Brink DM, Ofman R, Ferdinandusse S, Wanders RJ.

FEBS Lett. 2006 Apr 3;580(8):2092-6. Epub 2006 Mar 10.

31.

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ.

Mol Genet Metab. 2006 Mar;87(3):243-8. Epub 2006 Feb 8.

PMID:
16466957
32.
33.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

Perez-Cerda C, García-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, García-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A.

Pediatr Res. 2005 Sep;58(3):488-91. Erratum in: Pediatr Res. 2006 Jan;59(1):162. Perez-Cerda, Celia [added]; Ribes, Antonia [added].

PMID:
16148061
34.

Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes.

Sanders RJ, Ofman R, Valianpour F, Kemp S, Wanders RJ.

J Lipid Res. 2005 May;46(5):1001-8. Epub 2005 Feb 16.

35.

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ.

Mol Genet Metab. 2005 Feb;84(2):144-51. Erratum in: Mol Genet Metab. 2008 Mar;93(3):350.

PMID:
15670720
36.

Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts.

Hunt MC, Ruiter J, Mooyer P, van Roermond CW, Ofman R, Ijlst L, Wanders RJ.

Eur J Clin Invest. 2005 Jan;35(1):38-46.

PMID:
15638818
38.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ.

Am J Hum Genet. 2003 May;72(5):1300-7. Epub 2003 Apr 14.

39.

Demonstration of dimethylnonanoyl-CoA thioesterase activity in rat liver peroxisomes followed by purification and molecular cloning of the thioesterase involved.

Ofman R, el Mrabet L, Dacremont G, Spijer D, Wanders RJ.

Biochem Biophys Res Commun. 2002 Jan 18;290(2):629-34.

PMID:
11785945
40.

Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis.

Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ.

J Biol Chem. 2001 Sep 7;276(36):33512-7. Epub 2001 Jun 28.

41.

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

Jansen GA, van den Brink DM, Ofman R, Draghici O, Dacremont G, Wanders RJ.

Biochem Biophys Res Commun. 2001 May 11;283(3):674-9.

PMID:
11341778
43.

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG.

Dev Med Child Neurol. 2000 Jul;42(7):492-5.

44.

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.

Hum Mol Genet. 2000 May 1;9(8):1195-200.

PMID:
10767344
45.

Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver.

Vaz FM, van Gool S, Ofman R, IJlst L, Wanders RJ.

Adv Exp Med Biol. 1999;466:117-24.

PMID:
10709635
47.

Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.

Jansen GA, Ofman R, Denis S, Ferdinandusse S, Hogenhout EM, Jakobs C, Wanders RJ.

J Lipid Res. 1999 Dec;40(12):2244-54.

48.

Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase.

Ofman R, Hogenhout EM, Wanders RJ.

Biochim Biophys Acta. 1999 Jul 9;1439(1):89-94.

PMID:
10395968
49.

Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.

Vaz FM, van Gool S, Ofman R, Ijlst L, Wanders RJ.

Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10.

PMID:
9753662
50.

Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria.

Ventura FV, Ijlst L, Ruiter J, Ofman R, Costa CG, Jakobs C, Duran M, Tavares de Almeida I, Bieber LL, Wanders RJ.

Eur J Biochem. 1998 May 1;253(3):614-8.

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