Article
Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.
Human molecular genetics - 5 Nov 2024
Kalani Ladan, Kim Bo-Hyun, de Chavez Alberto Ruiz, Roemer Anastasia, Mikhailov Anna, Merritt Jonathan K, Good Katrina V, Chow Robert L, Delaney Kerry R, Hendzel Michael J, Zhou Zhaolan, Neul Jeffrey L, Vincent John B, Ausió Juan
Abstract excerpt
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...
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