Article

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

2016-09-08

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene, encoding methyl-CpG-binding protein 2. We have created a mouse model ( Mecp2 A140V “knock-in” mutant) expressing the recurrent human MECP2 A140V mutation linked to an X-linked mental retardation/Rett syndrome phenotype. Morphological analyses focused on quantifying soma and nucleus size were performed on primary...

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Literature Corpus work: b5fbc77d-2828-5277-a99e-6785e7ff53d0
DOI: 10.12688/f1000research.8156.1

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