Projects per year
Personal profile
specialisation
protein and enzyme analysis
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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
-
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
Open Access7 Citations (Scopus) -
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
Open Access9 Citations (Scopus) -
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
49 Citations (Scopus) -
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB
Meijer, O. L. M., van den Biggelaar, P., Ofman, R., Wijburg, F. A. & van Vlies, N., 2017, In: JIMD reports. 39, p. 97-106Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus) -
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy
van de Beek, M-C., Ofman, R., Dijkstra, I., Wijburg, F., Engelen, M., Wanders, R. & Kemp, S., 2017, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1863, 9, p. 2255-2265Research output: Contribution to journal › Article › Academic › peer-review
23 Citations (Scopus)