Publications MEng I.M.E. Dijkstra
- Position
- Support Staff
- Main activities
- Research
- Specialisation
- Biochemistry
- Focus of research
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.
Amsterdam UMC Research Institutes
AMC departments
All publications
2020
- Barendsen Rinse W., Dijkstra Inge M. E., Visser Wouter F., Alders Mariëlle, Bliek Jet, Boelen Anita, Bouva Marelle J., van der Crabben Saskia N., Elsinghorst Ellen, van Gorp Ankie G. M., Heijboer Annemieke C., Jansen Mandy, Jaspers Yorrick R. J., van Lenthe Henk, Metgod Ingrid, Mooij Christiaan F., van der Sluijs Elise H. C., van Trotsenburg A. S. Paul, Verschoof-Puite Rendelien K., Vaz Frédéric M., Waterham Hans R., Wijburg Frits A., Engelen Marc, Dekkers Eugènie, Kemp Stephan Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor Frontiers in cell and developmental biology 2020;8 [PubMed]
- Jaspers Yorrick R. J., Ferdinandusse Sacha, Dijkstra Inge M. E., Barendsen Rinse Willem, van Lenthe Henk, Kulik Wim, Engelen Marc, Goorden Susan M. I., Vaz Frédéric M., Kemp Stephan Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders Frontiers in cell and developmental biology 2020;8 [PubMed]
2017
- Huffnagel Irene C., van de Beek Malu-Clair, Showers Amanda L., Orsini Joseph J., Klouwer Femke C. C., Dijkstra Inge M. E., Schielen Peter C., van Lenthe Henk, Wanders Ronald J. A., Vaz Frédéric M., Morrissey Mark A., Engelen Marc, Kemp Stephan Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy Molecular genetics and metabolism 2017;122 (4):209-215 [PubMed]
- van de Beek Malu-Clair, Dijkstra Inge M. E., Kemp Stephan Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid Methods in molecular biology (Clifton, N.J.) 2017;1595:45-54 [PubMed]
2016
- van de Beek Malu-Clair, Dijkstra Inge M. E., van Lenthe Henk, Ofman Rob, Goldhaber-Pasillas Dalia, Schauer Nicolas, Schackmann Martin, Engelen-Lee Joo-Yeon, Vaz Frédéric M., Kulik Wim, Wanders Ronald J. A., Engelen Marc, Kemp Stephan C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man PLoS ONE 2016;11 (4):e0154597 [PubMed]
- van Engen Catherine E., Ofman Rob, Dijkstra Inge M. E., van Goethem Tessa Jacobs, Verheij Eveline, Varin Jennifer, Vidaud Michel, Wanders Ronald J. A., Aubourg Patrick, Kemp Stephan, Barbier Mathieu CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (10):1861-1870 [PubMed]
- Schackmann Martin J. A., Ofman Rob, van Geel Björn M., Dijkstra Inge M. E., van Engelen Klaartje, Wanders Ronald J. A., Engelen Marc, Kemp Stephan Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics Molecular genetics and metabolism 2016;118 (2):123-127 [PubMed]
2015
- Schackmann Martin J. A., Ofman Rob, Dijkstra Inge M. E., Wanders Ronald J. A., Kemp Stephan Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2015;1851 (2):231-237 [PubMed]
- Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy Brain 2015;138 (2):e326 [PubMed]
2014
- Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M. A., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan X-linked adrenoleukodystrophy in women: a cross-sectional cohort study Brain 2014;137 (Part 3):693-706 [PubMed]
2012
- Engelen Marc, Tran Luc, Ofman Rob, Brennecke Josephine, Moser Ann B., Dijkstra Inge M. E., Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Bezafibrate for X-Linked Adrenoleukodystrophy PLoS ONE 2012;7 (7):e41013 [PubMed]
- Engelen Marc, Schackmann Martin J. A., Ofman Rob, Sanders Robert-Jan, Dijkstra Inge M. E., Houten Sander M., Fourcade Stéphane, Pujol Aurora, Poll-The Bwee Tien, Wanders Ronald J. A., Kemp Stephan Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation Journal of inherited metabolic disease 2012;35 (6):1137-1145 [PubMed]
2010
- Ofman Rob, Dijkstra Inge M. E., van Roermund Carlo W. T., Burger Nena, Turkenburg Marjolein, van Cruchten Arno, van Engen Catherine E., Wanders Ronald J. A., Kemp Stephan The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy EMBO molecular medicine 2010;2 (3):90-97 [PubMed]