Koster J - Search Results

1

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Waterham HR, Koster J, Ebberink MS, Ješina P, Zeman J, Nosková L, Kmoch S, Devic P, Cheillan D, Wanders RJA, Ferdinandusse S. Waterham HR, et al. Among authors: koster j. Genet Med. 2023 Nov;25(11):100944. doi: 10.1016/j.gim.2023.100944. Epub 2023 Jul 23. Genet Med. 2023. PMID: 37493040 Free article.

2

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: koster j. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

3

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: koster j. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

4

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. Waterham HR, et al. Among authors: koster j. Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22. Am J Hum Genet. 2001. PMID: 11519011 Free PMC article.

5

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Waterham HR, et al. Among authors: koster j. Am J Hum Genet. 2003 Apr;72(4):1013-7. doi: 10.1086/373938. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618959 Free PMC article.

6

Phosphomevalonate kinase is a cytosolic protein in humans.

Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: koster j. J Lipid Res. 2004 Apr;45(4):697-705. doi: 10.1194/jlr.M300373-JLR200. Epub 2004 Jan 16. J Lipid Res. 2004. PMID: 14729858 Free article.

7

Mevalonate kinase is a cytosolic enzyme in humans.

Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: koster j. J Cell Sci. 2004 Feb 1;117(Pt 4):631-9. doi: 10.1242/jcs.00910. J Cell Sci. 2004. PMID: 14730012 Free article.

8

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.

Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: koster j. Mol Genet Metab. 2004 Mar;81(3):216-24. doi: 10.1016/j.ymgme.2003.12.001. Mol Genet Metab. 2004. PMID: 14972328

9

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH, Schneiders MS, Koster J, Waterham HR. Mandey SH, et al. Among authors: koster j. Hum Mutat. 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. Hum Mutat. 2006. PMID: 16835861

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. Among authors: koster j. Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535. Hum Mutat. 2007. PMID: 17458872

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