Ferdinandusse, Sacha

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

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 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

Peroxisomes, lipid metabolism and lipotoxicity

Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 169

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

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

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., et al. (2006) · The American Journal of Human Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 145

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

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

PPARα-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation

van Vlies, N., Ferdinandusse, S., Turkenburg, M., Wanders, R. J. A., & Vaz, F. M. (2007) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Peroxisome Proliferator-Activated ReceptorsMetabolism and Genetic Disorders

Cited by 98

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

Peroxisomal D-bifunctional protein deficiency

Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., et al. (2014) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 70

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

Jaspers, Y. R. J., Ferdinandusse, S., Dijkstra, I. M. E., Barendsen, R. W., van Lenthe, H., Kulik, W., Engelen, M., Goorden, S. M. I., Vaz, F. M., & Kemp, S. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 69

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

Keane, M. H., Overmars, H., Wikander, T. M., Ferdinandusse, S., Duran, M., Wanders, R. J. A., & Faust, P. L. (2007) · Hepatology

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 68

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

Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

Herzog, K., Pras‐Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., & Vaz, F. M. (2018) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 57

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice

Ferdinandusse, S., Denis, S., Overmars, H., Van Eeckhoudt, L., Van Veldhoven, P. P., Duran, M., Wanders, R. J. A., & Baes, M. (2005) · Journal of Biological Chemistry

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 47

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Peroxisomes and their central role in metabolic interaction networks in humans.

Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2018) · Subcellular Biochemistry

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 31

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., et al. (2021) · Genes

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 14