Kemp, Stephan

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

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy

Lysosomal Storage Disorders ResearchVirus-based gene therapy research

Cited by 67

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Mallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 60

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

van de Beek, M.-C., Dijkstra, I. M. E., van Lenthe, H., Ofman, R., Goldhaber-Pasillas, D., Schauer, N., Schackmann, M., Engelen-Lee, J.-Y., Vaz, F. M., Kulik, W., et al. (2016) · PLOS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy

Gong, Y., Berenson, A., Laheji, F., Gao, G., Wang, D., Ng, C., Volak, A., Kok, R., Kreouzis, V., Dijkstra, I. M., et al. (2019) · Human Gene Therapy

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 45

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: An analysis using cross-kingdom expression

Zhang, X., De Marcos Lousa, C., Schutte-Lensink, N., Ofman, R., Wanders, R. J., Baldwin, S. A., Baker, A., Kemp, S., & Theodoulou, F. L. (2011) · Biochemical Journal

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 43

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

Rodríguez-Pascau, L., Vilalta, A., Cerrada, M., Traver, E., Forss-Petter, S., Weinhofer, I., Bauer, J., Kemp, S., Pina, G., Pascual, S., et al. (2021) · Science Translational Medicine

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 40

Method for measurement of peroxisomal very-long-chain fatty acid β-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid

Kemp, S., Valianpour, F., Mooyer, P. A. W., Kulik, W., & Wanders, R. J. A. (2004) · Clinical Chemistry

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 40

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A. (1996) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 37

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

Richmond, P. A., van der Kloet, F., Vaz, F. M., Lin, D., Uzozie, A., Graham, E., Kobor, M., Mostafavi, S., Moerland, P. D., Lange, P. F., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 29

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 26

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

Linnebank, M., Kemp, S., Wanders, R. J. A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Köhler, W., et al. (2006) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 22

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

Weinhofer, I., Buda, A., Kunze, M., Palfi, Z., Traunfellner, M., Hesse, S., Villoria-Gonzalez, A., Hofmann, J., Hametner, S., Regelsberger, G., et al. (2022) · Communications Biology

Cytomegalovirus and herpesvirus researchHerpesvirus Infections and Treatments

Cited by 20

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

Buda, A., Forss-Petter, S., Hua, R., Jaspers, Y., Lassnig, M., Waidhofer-Söllner, P., Kemp, S., Kim, P., Weinhofer, I., & Berger, J. (2023) · Biomolecules

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 14

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

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Engelen, M., van der Kooi, A. J., Kemp, S., Wanders, R. J. A., Sistermans, E. A., Waterham, H. R., Koelman, J. T. M., van Geel, B. M., & de Visser, M. (2011) · Journal of the Peripheral Nervous System

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 12

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs

Vasireddy, V., Maguire, C. A., Anderson, D. W., Ng, C., Gong, Y., Eichler, F., Fourcade, S., Guilera, C., Onieva, A., Sanchez, A., et al. (2024) · Molecular Therapy - Methods & Clinical Development

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 6

The variability conundrum in neurometabolic degenerative diseases

van Karnebeek, C. D. M., Richmond, P. A., van der Kloet, F., Wasserman, W. W., Engelen, M., & Kemp, S. (2020) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 4