Specialization
protein and enzyme analysis
Amsterdam Neuroscience
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Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect
Klouwer, F. C. C., Falkenberg, K. D., Ofman, R., Koster, J., van Gent, D. M., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 1 Apr 2021, In: Frontiers in cell and developmental biology. 9, 661298.Research output: Contribution to journal › Article* › Academic › peer-review
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Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
Berendse, K., Boek, M., Gijbels, M., van der Wel, N. N., Klouwer, F. C., van den Bergh-Weerman, M. A., Shinde, A. B., Ofman, R., Poll-The, B. T., Houten, S. M., Baes, M., Wanders, R. J. A. & Waterham, H. R., 1 Oct 2019, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1865, 10, p. 2774-2787Research output: Contribution to journal › Article* › Academic › peer-review
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
Chatzispyrou, I. A., Alders, M., Guerrero-Castillo, S., Zapata Perez, R., Haagmans, M. A., Mouchiroud, L., Koster, J., Ofman, R., Baas, F., Waterham, H. R., Spelbrink, J. N., Auwerx, J., Mannens, M. M., Houtkooper, R. H. & Plomp, A. S., 2017, In: Human molecular genetics. 26, 13, p. 2541-2550Research output: Contribution to journal › Article* › Academic › peer-review
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