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Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality
The Tsc2 product, tuberin, negatively regulates the mTOR pathway. We have exploited the Eker (Tsc2-mutant) rat system to analyse various Tsc2 mutations. Here, we focus on the N525S-Tsc2 variant (NSM), which is known to cause distinct symptoms in patients even though normal suppression of mTOR is obs...
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Publicado no: | Sci Rep |
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Main Authors: | , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2014
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5379989/ https://ncbi.nlm.nih.gov/pubmed/25088526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep05927 |
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