עקוב אחר
HR Waterham
HR Waterham
Professor Functional Genetics of Metabolic Diseases at University of Amsterdam
כתובת אימייל מאומתת בדומיין amc.uva.nl
כותרת
צוטט על ידי
צוטט על ידי
שנה
Biochemistry of mammalian peroxisomes revisited‏
RJA Wanders, HR Waterham‏
Annu. Rev. Biochem. 75 (1), 295-332, 2006‏
11752006
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
8752007
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
6851997
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
5921999
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
5152004
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
4102016
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
4042001
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
4012016
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
3872004
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
3772001
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
3652001
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
3582001
Peroxisomal disorders: the single peroxisomal enzyme deficiencies‏
RJA Wanders, HR Waterham‏
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006‏
3512006
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
3352000
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
3262012
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
3252008
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
308*1998
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
3062018
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
2772000
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
2712008
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מאמרים 1–20