Journal article
N-ethyl-N-nitrosourea-induced adaptor protein 2 sigma subunit 1 ( Ap2s1 ) mutations establish Ap2s1 loss-of-function mice
- Abstract:
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The adaptor protein-2 sigma subunit (AP2σ), encoded by AP2S1, forms a heterotetrameric complex, with AP2α, AP2β, and AP2μ subunits, that is pivotal for clathrin-mediated endocytosis, and AP2σ loss-of-function mutations impair internalization of the calcium-sensing receptor (CaSR), a G-protein–coupled receptor, and cause familial hypocalciuric hypercalcemia type-3 (FHH3). Mice with AP2σ mutations that would facilitate investigations of the in vivo role of AP2σ, are not available, and we theref...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 2.5MB)
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- Publisher copy:
- 10.1002/jbm4.10001
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Funding
Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- JBMR Plus Journal website
- Volume:
- 1
- Issue:
- 1
- Pages:
- 3-15
- Publication date:
- 2017-03-09
- Acceptance date:
- 2017-02-05
- DOI:
- ISSN:
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2473-4039
- Source identifiers:
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701404
Item Description
- Keywords:
- Pubs id:
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pubs:701404
- UUID:
-
uuid:6331fd71-7cb0-4d77-8b9e-916a18c0ade3
- Local pid:
- pubs:701404
- Deposit date:
- 2017-06-20
Terms of use
- Copyright holder:
- © 2017 American Society for Bone and Mineral Research
- Copyright date:
- 2017
- Notes:
- This is an open access article published under a creative commons license, see: https://creativecommons.org/licenses/by/3.0/
- Licence:
- CC Attribution (CC BY)
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