Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms
Ladan Kalani,
Bo-Hyun Kim,
Alberto Ruiz de Chavez
et al.
Abstract:Mutations in methyl-CpG binding protein 2 (MeCP2), such as the T158M, P152R, R294X, and R306C mutations, are responsible for most Rett syndrome (RTT) cases. These mutations often result in altered protein expression that appears to correlate with changes in the nuclear size; however, the molecular details of these observations are poorly understood. Using a C2C12 cellular system expressing human MeCP2-E1 isoform as well as mouse models expressing these mutations, we show that T158M and P152R result in a decrea… Show more
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