The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor
Open accessAbstract
Nearly 30 mutations have been identified to date in the coding region of the extracellular calcium-sensing receptor (CaR) that are associated with inherited human hypo- and hypercalcemic disorders. To understand the mechanisms by which the mutations alter the function of the receptor may help to discern the structure-function relationships in terms of ligand-binding and G protein coupling. In the present studies, we transiently expressed eight known CaR mutations in HEK293 cells. The effects of the mutations on extracellular calcium- and gadolinium-elicited increases in the cytosolic calcium concentration were then examined. Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein(s). Conversely, one activating mutation, which causes a form of autosomal dominant hypocalcemia, appears to increase the affinity of the receptor for its agonists.
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Metadata
- Authors
- Bai, M., Quinn, S., Trivedi, S., Kifor, O., Pearce, S. H. S., Pollak, M. R., Krapcho, K., Hebert, S. C., & Brown, E. M.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 1996-08
- Volume
- 271
- Issue
- 32
- Pages
- 19537-19545
- ISSN
- 0021-9258 (ISSN-L)
- OpenAlex
- W1972065681
- Cited by
- 422
- References
- 16
- FWCI
- 24.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Bai, M., Quinn, S., Trivedi, S., Kifor, O., Pearce, S. H. S., Pollak, M. R., Krapcho, K., Hebert, S. C., & Brown, E. M. (1996). Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor. Journal of Biological Chemistry. https://doi.org/10.1074/jbc.271.32.19537
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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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