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HR Waterham
HR Waterham
Professor Functional Genetics of Metabolic Diseases at University of Amsterdam
Verified email at amc.uva.nl
Title
Cited by
Cited by
Year
Biochemistry of mammalian peroxisomes revisited
RJA Wanders, HR Waterham
Annu. Rev. Biochem. 75, 295-332, 2006
11022006
A lethal defect of mitochondrial and peroxisomal fission
HR Waterham, J Koster, CWT van Roermund, PAW Mooyer, ...
New England Journal of Medicine 356 (17), 1736-1741, 2007
8202007
Isolation of the Pichia pastoris glyceraldehyde-3-phosphate dehydrogenase gene and regulation and use of its promoter
HR Waterham, ME Digan, PJ Koutz, SV Lair, JM Cregg
Gene 186 (1), 37-44, 1997
6591997
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
SM Houten, W Kuis, M Duran, TJ De Koning, A van Royen-Kerkhof, ...
Nature genetics 22 (2), 175-177, 1999
5761999
Functions and biosynthesis of plasmalogens in health and disease
P Brites, HR Waterham, RJA Wanders
Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2004
4952004
Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
HR Waterham, J Koster, GJ Romeijn, RCM Hennekam, P Vreken, ...
The American Journal of Human Genetics 69 (4), 685-694, 2001
3922001
Infevers: an evolving mutation database for auto‐inflammatory syndromes
I Touitou, S Lesage, M McDermott, L Cuisset, H Hoffman, C Dode, ...
Human mutation 24 (3), 194-198, 2004
3662004
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
S Kemp, A Pujol, HR Waterham, BM Van Geel, CD Boehm, GV Raymond, ...
Human mutation 18 (6), 499-515, 2001
3642001
Human disorders of peroxisome metabolism and biogenesis
HR Waterham, S Ferdinandusse, RJA Wanders
Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research 1863 (5), 922-933, 2016
3562016
Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
RJA Wanders, P Vreken, S Ferdinandusse, GA Jansen, HR Waterham, ...
Biochemical Society Transactions 29 (2), 250-267, 2001
3542001
Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum
RJA Wanders, HR Waterham, S Ferdinandusse
Frontiers in cell and developmental biology 3, 83, 2016
3462016
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+ 1G> A …
ABP van Kuilenburg, EW Muller, J Haasjes, R Meinsma, L Zoetekouw, ...
Clinical cancer research 7 (5), 1149-1153, 2001
3442001
Peroxisomal disorders: the single peroxisomal enzyme deficiencies
RJA Wanders, HR Waterham
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006
3302006
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
S Ferdinandusse, S Denis, PT Clayton, A Graham, JE Rees, JT Allen, ...
Nature genetics 24 (2), 188-191, 2000
3142000
The infevers autoinflammatory mutation online registry: update with new genes and functions
F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ...
Human mutation 29 (6), 803-808, 2008
3082008
Genetics and molecular basis of human peroxisome biogenesis disorders
HR Waterham, MS Ebberink
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012
3072012
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
HR Waterham, FA Wijburg, RCM Hennekam, P Vreken, L Dorland, ...
The American Journal of Human Genetics 63 (2), 329-338, 1998
302*1998
Subcellular localization and physiological role of α-methylacyl-CoA racemase
S Ferdinandusse, S Denis, L IJlst, G Dacremont, HR Waterham, ...
Journal of lipid research 41 (11), 1890-1896, 2000
2782000
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact
N Shai, E Yifrach, CWT van Roermund, N Cohen, C Bibi, L IJlst, ...
Nature communications 9 (1), 1761, 2018
2552018
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters
CWT van Roermund, WF Visser, L IJlst, A van Cruchten, M Boek, W Kulik, ...
The FASEB Journal 22 (12), 4201-4208, 2008
2552008
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