Waterham, Hans R.

Biochemistry of mammalian peroxisomes revisited

Wanders, R. J. A., & Waterham, H. R. (2006) · Annual Review of Biochemistry

Metabolism and Genetic DisordersPeroxisome Proliferator-Activated Receptors

Cited by 995

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Waterham, H. R., Koster, J., van Roermund, C. W. T., Mooyer, P. A. W., Wanders, R. J. A., & Leonard, J. V. (2007) · New England Journal of Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 749

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2016) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 366

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 321

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

Shai, N., Yifrach, E., van Roermund, C. W. T., Cohen, N., Bibi, C., IJlst, L., Cavellini, L., Meurisse, J., Schuster, R., Zada, L., et al. (2018) · Nature Communications

Mitochondrial Function and PathologyCellular transport and secretion

Cited by 320

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 296

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., et al. (2000) · Nature Genetics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 262

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters

van Roermund, C. W. T., Visser, W. F., IJlst, L., van Cruchten, A., Boek, M., Kulik, W., Waterham, H. R., & Wanders, R. J. A. (2008) · The FASEB Journal

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 233

Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling

Wiese, S., Gronemeyer, T., Ofman, R., Kunze, M., Grou, C. P., Almeida, J. A., Eisenacher, M., Stephan, C., Hayen, H., Schollenberger, L., et al. (2007) · Molecular & Cellular Proteomics

Advanced Proteomics Techniques and ApplicationsRedox biology and oxidative stress

Cited by 231

The physiological functions of human peroxisomes

Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 228

Peroxisomal fatty acid α- and β -oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases

Wanders, R. J. A., Vreken, P., Ferdinandusse, S., Jansen, G. A., Waterham, H. R., van Roermund, C. W. T., & Van Grunsven, E. G. (2001) · Biochemical Society Transactions

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 225

Identification of PEX7 as the second gene involved in Refsum disease

van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 171

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 156

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation

van Roermund, C. W. T., Visser, W. F., IJlst, L., Waterham, H. R., & Wanders, R. J. A. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 128

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A., et al. (2017) · Journal of Medical Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 120

Plasmalogens participate in very-long-chain fatty acid-induced pathology

Brites, P., Mooyer, P. A. W., el Mrabet, L., Waterham, H. R., & Wanders, R. J. A. (2008) · Brain

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 112

Defects of cholesterol biosynthesis

Waterham, H. R. (2006) · FEBS Letters

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 108

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics

Metabolism and Genetic DisordersGlycogen Storage Diseases and Myoclonus

Cited by 107

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids

van Roermund, C. W. T., IJlst, L., Wagemans, T., Wanders, R. J. A., & Waterham, H. R. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersPeroxisome Proliferator-Activated Receptors

Cited by 101

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype–phenotype analysis

Ferdinandusse, S., Ylianttila, M. S., Gloerich, J., Koski, M. K., Oostheim, W., Waterham, H. R., Hiltunen, J. K., Wanders, R. J. A., & Glumoff, T. (2006) · The American Journal of Human Genetics

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 96

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., et al. (2010) · Journal of Medical Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 94

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Barøy, T., Koster, J., Strømme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 81

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., & Aubourg, P. (2011) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersGenetic Neurodegenerative Diseases

Cited by 66