Biochemistry of mammalian peroxisomes revisited RJA Wanders, HR Waterham Annu. Rev. Biochem. 75 (1), 295-332, 2006 | 1128 | 2006 |
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 | 845 | 2007 |
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 | 669 | 1997 |
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 | 584 | 1999 |
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 | 500 | 2004 |
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 | 398 | 2001 |
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 | 374 | 2004 |
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 | 372 | 2016 |
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 | 369 | 2001 |
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 | 365 | 2016 |
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 | 357 | 2001 |
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 | 351 | 2001 |
Peroxisomal disorders: the single peroxisomal enzyme deficiencies RJA Wanders, HR Waterham Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006 | 340 | 2006 |
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 | 321 | 2000 |
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 | 317 | 2012 |
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 | 314 | 2008 |
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 | 306* | 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 | 275 | 2000 |
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 | 273 | 2018 |
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 | 259 | 2008 |