Hans R Waterham


Affiliation: Academic Medical Center
Country: The Netherlands


  1. Herzog K, IJlst L, van Cruchten A, van Roermund C, Kulik W, Wanders R, et al. An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells. Metabolites. 2019;9: pubmed publisher
    ..Here we present a protocol to measure glutathione levels in cultured human and yeast cells using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC⁻MS/MS). ..
  2. Waterham H, Ferdinandusse S, Wanders R. Human disorders of peroxisome metabolism and biogenesis. Biochim Biophys Acta. 2016;1863:922-33 pubmed publisher
    ..e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known. ..
  3. Koster J, Waterham H. Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies. Methods Mol Biol. 2017;1595:63-67 pubmed publisher
    ..Here, we describe a protocol we commonly use for efficient nonviral transfection of primary human skin fibroblasts. ..
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    Waterham H. Defects of cholesterol biosynthesis. FEBS Lett. 2006;580:5442-9 pubmed
    ..The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors. ..
  5. Klouwer F, Koster J, Ferdinandusse S, Waterham H. Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line. Histochem Cell Biol. 2017;147:537-541 pubmed publisher
  6. Herzog K, van Lenthe H, Wanders R, Vaz F, Waterham H, Ferdinandusse S. Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. Mol Genet Metab. 2017;121:279-282 pubmed publisher
    ..We conclude that the measurement of phytanoyl- and pristanoyl-carnitine is not sensitive and specific enough to use these acylcarnitines as conclusive diagnostic markers for peroxisomal disorders. ..
  7. Herzog K, Pras Raves M, Ferdinandusse S, Vervaart M, Luyf A, van Kampen A, et al. Plasma lipidomics as a diagnostic tool for peroxisomal disorders. J Inherit Metab Dis. 2018;41:489-498 pubmed publisher
    ..The results presented in this paper show the power of lipidomics approaches to enable the specific diagnosis of different peroxisomal disorders. ..
  8. Falkenberg K, Braverman N, Moser A, Steinberg S, Klouwer F, Schluter A, et al. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. Am J Hum Genet. 2017;101:965-976 pubmed publisher
    ..AEI promoting the overrepresentation of a mutant allele might also play a role in other autosomal-recessive disorders, in which only one heterozygous pathogenic variant is identified. ..
  9. Waterham H, Koster J, Romeijn G, Hennekam R, Vreken P, Andersson H, et al. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001;69:685-94 pubmed
    ..Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24. ..

More Information


  1. Waterham H, Koster J, Mooyer P, Noort Gv G, Kelley R, Wilcox W, et al. 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. Am J Hum Genet. 2003;72:1013-7 pubmed
    ..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency. ..
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    Waterham H, Koster J, van Roermund C, Mooyer P, Wanders R, Leonard J. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med. 2007;356:1736-41 pubmed
    ..Overexpression of the mutant DLP1 in control cells reproduced the fission defect. Our findings are representative of a class of disease characterized by defects in both mitochondria and peroxisomes. ..
  3. Berendse K, Ebberink M, IJlst L, Poll The B, Wanders R, Waterham H. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis. 2013;8:138 pubmed publisher
    ..Arginine may be an interesting compound to promote peroxisome function in patients with a mild peroxisome biogenesis disorder. ..
  4. Ratbi I, Falkenberg K, Sommen M, Al Sheqaih N, Guaoua S, Vandeweyer G, et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015;97:535-45 pubmed publisher
    ..In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6. ..
  5. Waterham H, Wijburg F, Hennekam R, Vreken P, Poll The B, Dorland L, et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet. 1998;63:329-38 pubmed
    ..Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase. ..
  6. Bjørgo K, Fjær R, Mørk H, Ferdinandusse S, Falkenberg K, Waterham H, et al. Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. Mol Genet Metab. 2017;121:325-328 pubmed publisher
    ..This transcript translates into a protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. ..
  7. Herzog K, Pras Raves M, Ferdinandusse S, Vervaart M, Luyf A, van Kampen A, et al. Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics. J Inherit Metab Dis. 2018;41:479-487 pubmed publisher
    ..We defined specific phospholipid ratios reflecting the different enzyme defects, which can be used to discriminate the PED fibroblasts from healthy control cells. ..
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    Waterham H, Wanders R. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. Biochim Biophys Acta. 2000;1529:340-56 pubmed
    ..3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta(7) double bond of 7-dehydrocholesterol to produce cholesterol. ..