The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D 3
Open accessAbstract
Steroid hormones are central regulators of a variety of biological processes. According to the free hormone hypothesis, steroids enter target cells by passive diffusion. However, recently we demonstrated that 25(OH) vitamin D 3 complexed to its plasma carrier, the vitamin D-binding protein, enters renal proximal tubules by receptor-mediated endocytosis. Knockout mice lacking the endocytic receptor megalin lose 25(OH) vitamin D 3 in the urine and develop bone disease. Here, we report that cubilin, a membrane-associated protein colocalizing with megalin, facilitates the endocytic process by sequestering steroid–carrier complexes on the cellular surface before megalin-mediated internalization of the cubilin-bound ligand. Dogs with an inherited disorder affecting cubilin biosynthesis exhibit abnormal vitamin D metabolism. Similarly, human patients with mutations causing cubilin dysfunction exhibit urinary excretion of 25(OH) vitamin D 3 . This observation identifies spontaneous mutations in an endocytic receptor pathway affecting cellular uptake and metabolism of a steroid hormone.
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Cites
The Free Hormone Hypothesis: A Physiologically Based Mathematical Model*
MENDEL, C. M. (1989) · Endocrine Reviews · doi:10.1210/edrv-10-3-232 · Cited by 961
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Hammes, A., Andreassen, T. K., Spoelgen, R., Raila, J., Hubner, N., Schulz, H., Metzger, J., Schweigert, F. J., Luppa, P. B., Nykjaer, A., et al. (2005) · Cell · doi:10.1016/j.cell.2005.06.032 · Cited by 413
Self-citationVitamin D Binding Protein: A Historic Overview
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Metadata
- Authors
- Nykjaer, A., Fyfe, J. C., Kozyraki, R., Leheste, J.-R., Jacobsen, C., Nielsen, M. S., Verroust, P. J., Aminoff, M., de la Chapelle, A., Moestrup, S. K., Ray, R., Gliemann, J., Willnow, T. E., & Christensen, E. I.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2001-11-20
- Volume
- 98
- Issue
- 24
- Pages
- 13895-13900
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2110797318
- Cited by
- 325
- References
- 1
- FWCI
- 6.85
- Type
- journal article
- Language
- en
- Open access
- green
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- Nykjaer, A., Fyfe, J. C., Kozyraki, R., Leheste, J.-R., Jacobsen, C., Nielsen, M. S., Verroust, P. J., Aminoff, M., de la Chapelle, A., Moestrup, S. K., Ray, R., Gliemann, J., Willnow, T. E., & Christensen, E. I. (2001). Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D 3. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.241516998
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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