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Mouse and cellular models of <i>KPTN</i> -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

2022-07-16

Abstract excerpt

KPTN -related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN ( kaptin ), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn −/− mice display many of the key KRD phenotypes, including brain overgrowth, behavioural abnormalities, and...

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Literature Corpus work
7a5964ce-e3f3-5f4f-88d2-a1a16d379329
DOI
10.1101/2022.07.15.500213
Open publication

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Mouse and cellular models of <i>KPTN</i> -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypesDOI 10.1101/2022.07.15.500213
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