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Items: 1 to 20 of 55

1.

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.

Hum Mutat. 2019 Jun 12. doi: 10.1002/humu.23839. [Epub ahead of print]

PMID:
31187905
2.

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.

Herzog K, IJlst L, van Cruchten AG, van Roermund CWT, Kulik W, Wanders RJA, Waterham HR.

Metabolites. 2019 Mar 5;9(3). pii: E45. doi: 10.3390/metabo9030045.

3.

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1.

4.

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH.

Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Review.

5.

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

Shai N, Yifrach E, van Roermund CWT, Cohen N, Bibi C, IJlst L, Cavellini L, Meurisse J, Schuster R, Zada L, Mari MC, Reggiori FM, Hughes AL, Escobar-Henriques M, Cohen MM, Waterham HR, Wanders RJA, Schuldiner M, Zalckvar E.

Nat Commun. 2018 May 2;9(1):1761. doi: 10.1038/s41467-018-03957-8.

6.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Knottnerus SJG, Nijmeijer SCM, IJlst L, Te Brinke H, van Vlies N, Wijburg FA.

Ann Neurol. 2017 Nov;82(5):686-696. doi: 10.1002/ana.25069. Epub 2017 Oct 26.

7.

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ.

Mol Genet Metab. 2016 Dec;119(4):307-310. doi: 10.1016/j.ymgme.2016.10.004. Epub 2016 Oct 13.

PMID:
27771289
8.

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.

Kingma SDK, Wagemans T, IJlst L, Bronckers ALJJ, van Kuppevelt TH, Everts V, Wijburg FA, van Vlies N.

Bone. 2016 Jul;88:92-100. doi: 10.1016/j.bone.2016.01.029. Epub 2016 Apr 19.

PMID:
27105565
9.

N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids.

Jansen RS, Addie R, Merkx R, Fish A, Mahakena S, Bleijerveld OB, Altelaar M, IJlst L, Wanders RJ, Borst P, van de Wetering K.

Proc Natl Acad Sci U S A. 2015 May 26;112(21):6601-6. doi: 10.1073/pnas.1424638112. Epub 2015 May 11.

10.

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model.

Kingma SD, Wagemans T, IJlst L, Seppen J, Gijbels MJ, Wijburg FA, van Vlies N.

JIMD Rep. 2015;23:77-83. doi: 10.1007/8904_2015_432. Epub 2015 Apr 9.

11.

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.

Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2.

PMID:
25834949
12.

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.

Kingma SD, Wagemans T, IJlst L, Wijburg FA, van Vlies N.

J Inherit Metab Dis. 2014 Sep;37(5):813-21. doi: 10.1007/s10545-014-9703-x. Epub 2014 Apr 4.

PMID:
24699889
13.

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

van Roermund CW, Ijlst L, Wagemans T, Wanders RJ, Waterham HR.

Biochim Biophys Acta. 2014 Apr 4;1841(4):563-8. doi: 10.1016/j.bbalip.2013.12.001. Epub 2013 Dec 13.

PMID:
24333844
14.

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

Luís PB, Ruiter J, IJlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF.

J Inherit Metab Dis. 2014 May;37(3):353-7. doi: 10.1007/s10545-013-9657-4. Epub 2013 Oct 24.

PMID:
24154984
15.

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR.

Orphanet J Rare Dis. 2013 Sep 9;8:138. doi: 10.1186/1750-1172-8-138.

16.

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.

Violante S, Ijlst L, Te Brinke H, Koster J, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

Biochim Biophys Acta. 2013 Sep;1831(9):1467-74. doi: 10.1016/j.bbalip.2013.06.007. Epub 2013 Jul 10.

PMID:
23850792
17.

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, IJlst L, Wanders RJ, Wijburg FA, van Vlies N.

Orphanet J Rare Dis. 2013 Jul 9;8:99. doi: 10.1186/1750-1172-8-99.

18.

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

Violante S, Ijlst L, Ruiter J, Koster J, van Lenthe H, Duran M, de Almeida IT, Wanders RJ, Houten SM, Ventura FV.

Biochim Biophys Acta. 2013 Jun;1832(6):773-9. doi: 10.1016/j.bbadis.2013.02.012. Epub 2013 Feb 24.

19.

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G.

JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31.

20.

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.

Violante S, Ijlst L, Te Brinke H, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

FASEB J. 2013 May;27(5):2039-44. doi: 10.1096/fj.12-216689. Epub 2013 Jan 15.

PMID:
23322164

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