Hypopigmentation and Maternal-Zygotic Embryonic Lethality Caused by a Hypomorphic Mbtps1 Mutation in Mice

The site 1 protease, encoded by Mbtps1, mediates the initial cleavage of site 2 protease substrates, including sterol regulatory element binding proteins and CREB/ATF transcription factors. We demonstrate that a hypomorphic mutation of Mbtps1 called woodrat (wrt) caused hypocholesterolemia, as well...

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Bibliografiske detaljer
Main Authors: Rutschmann, Sophie, Crozat, Karine, Li, Xiaohong, Du, Xin, Hanselman, Jeffrey C., Shigeoka, Alana A., Brandl, Katharina, Popkin, Daniel L., McKay, Dianne B., Xia, Yu, Moresco, Eva Marie Y., Beutler, Bruce
Format: Artigo
Sprog:Inglês
Udgivet: Genetics Society of America 2012
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Investigations
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3337478/
https://ncbi.nlm.nih.gov/pubmed/22540041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.112.002196
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