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Journal article

N-ethyl-N-nitrosourea-induced adaptor protein 2 sigma subunit 1 ( Ap2s1 ) mutations establish Ap2s1 loss-of-function mice

Abstract:

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
Version:
Publisher's version

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Publisher copy:
10.1002/jbm4.10001

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Department:
Exeter College
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Author
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Department:
Oxford, MSD, RDM, OCDEM
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Author
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Funding agency for:
Thakker, RV
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:
2473-4039
Pubs id:
pubs:701404
URN:
uri:6331fd71-7cb0-4d77-8b9e-916a18c0ade3
UUID:
uuid:6331fd71-7cb0-4d77-8b9e-916a18c0ade3
Local pid:
pubs:701404

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