Genomes and Genes
Hans R Waterham
Affiliation: Academic Medical Center
Country: The Netherlands
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- Herzog K, Pras Raves M, Ferdinandusse S, Vervaart M, Luyf A, van Kampen A, et al. Functional characterisation of peroxisomal ?-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. ..