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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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Shiono, Masatoshi, Kobayashi, Toshiyuki, Takahashi, Riichi, Ueda, Masatsugu, Ishioka, Chikashi, Hino, Okio
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2014
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Article
Länkar: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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