The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Defective forebrain development in mice lacking gp330/megalin.
Open accessAbstract
gp330/megalin, a member of the low density lipoprotein (LDL) receptor gene family, is expressed on the apical surfaces of epithelial tissues, including the neuroepithelium, where it mediates the endocytic uptake of diverse macromolecules, such as cholesterol-carrying lipoproteins, proteases, and antiproteinases. Megalin knockout mice manifest abnormalities in epithelial tissues including lung and kidney that normally express the protein and they die perinatally from respiratory insufficiency. In brain, impaired proliferation of neuroepithelium produces a holoprosencephalic syndrome, characterized by lack of olfactory bulbs, forebrain fusion, and a common ventricular system. Similar syndromes in humans and animals are caused by insufficient supply of cholesterol during development. Because megalin can bind lipoproteins, we propose that the receptor is part of the maternal-fetal lipoprotein transport system and mediates the endocytic uptake of essential nutrients in the postgastrulation stage.
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Citations
Cites
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
Willnow, T. E., Rohlmann, A., Horton, J., Otani, H., Braun, J. R., Hammer, R. E., & Herz, J. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00623.x · Cited by 276
Self-citation
Cited by
Cholesterol metabolism in the brain
Dietschy, J. M., & Turley, S. D. (2001) · Current Opinion in Lipidology · doi:10.1097/00041433-200104000-00003 · Cited by 906
Apolipoprotein E and Apolipoprotein E Receptors: Normal Biology and Roles in Alzheimer Disease
Holtzman, D. M., Herz, J., & Bu, G. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a006312 · Cited by 782
Self-citationThe integrated landscape of driver genomic alterations in glioblastoma
Frattini, V., Trifonov, V., Chan, J. M., Castano, A., Lia, M., Abate, F., Keir, S. T., Ji, A. X., Zoppoli, P., Niola, F., et al. (2013) · Nature Genetics · doi:10.1038/ng.2734 · Cited by 524
Nielsen, R., Christensen, E. I., & Birn, H. (2016) · Kidney International · doi:10.1016/j.kint.2015.11.007 · Cited by 486
The Smith-Lemli-Opitz syndrome
Kelley, R. I., & Hennekam, R. C. M. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.5.321 · Cited by 480
Metadata
- Authors
- Willnow, T. E., Hilpert, J., Armstrong, S. A., Rohlmann, A., Hammer, R. E., Burns, D. K., & Herz, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1996-08-06
- Volume
- 93
- Issue
- 16
- Pages
- 8460-8464
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1970195398
- Cited by
- 483
- References
- 2
- FWCI
- 7.05
- Type
- journal article
- Language
- en
- Open access
- green
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- Willnow, T. E., Hilpert, J., Armstrong, S. A., Rohlmann, A., Hammer, R. E., Burns, D. K., & Herz, J. (1996). Defective forebrain development in mice lacking gp330/megalin. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.93.16.8460
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