Projects per year
Personal profile
Research interests
Toward a rational therapy for X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited disorder of the central nervous system white matter. It is characterized by a striking and unpredictable variation in phenotypic expression, ranging from a rapidly progressive and fatal cerebral demyelinating disease in childhood, to the milder slowly progressive form in adulthood, and variants without neurological involvement. Currently, treatment options are very limited and are mostly symptomatic.
X-ALD is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter ALDP. A defect in ALDP impairs peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) resulting in an accumulation of VLCFA in all tissues.
How a defect in ALDP and elevated VLCFA levels eventually result in the onset of disease and loss of myelin remains largely unresolved.
The major objective of our research is to resolve the role of VLCFA metabolism in the pathogenesis of X-ALD and use this knowledge for the development of a rationally based therapy for X-ALD.
specialisation
Collaborations and top research areas from the last five years
Projects
- 1 Active
-
Kemp S.: Lipid metabolism and Neurotoxicity
van de Beek, M., van Engen, C., Schackmann, M., Kemp, S., Dijkstra, I., Engelen, M. & Ofman, R.
1/01/2010 → …
Project: Research
-
Sex-specific newborn screening for X-linked adrenoleukodystrophy
Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 others , 17 Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus) -
Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness
Zierfuss, B., Buda, A., Villoria-González, A., Logist, M., Fabjan, J., Parzer, P., Battin, C., Vandersteene, S., Dijkstra, I. M. E., Waidhofer-Söllner, P., Grabmeier-Pfistershammer, K., Steinberger, P., Kemp, S., Forss-Petter, S., Berger, J. & Weinhofer, I., 1 Dec 2022, In: Journal of neuroinflammation. 19, 1, 305.Research output: Contribution to journal › Article › Academic › peer-review
Open Access7 Citations (Scopus) -
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., Willemsen, M. A., Hui, J., Vaz, F. M., Ebberink, M. S., Engelen, M., Kemp, S. & Ferdinandusse, S., 1 Dec 2021, In: Genes. 12, 12, 1930.Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus) -
Corrigendum: 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., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M., & 5 others , 2021, In: Frontiers in cell and developmental biology. 9, p. 631655Research output: Contribution to journal › Article › Academic › peer-review
-
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020.00499)
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., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M., & 5 others , 28 Jan 2021, In: Frontiers in cell and developmental biology. 9, 631655.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access1 Citation (Scopus)