Article
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
Human molecular genetics - 1 Nov 2004
Collins Ann L, Levenson Jonathan M, Vilaythong Alexander P, Richman Ronald, Armstrong Dawna L, Noebels Jeffrey L, David Sweatt J, Zoghbi Huda Y
Abstract excerpt
Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2), encoding a transcriptional repressor, cause Rett syndrome and a variety of related neurodevelopmental disorders. The vast majority of mutations associated with human disease are loss-of-function mutations, but precisely what aspect of MeCP2 function is responsible for these phenotypes remains unknown. We overexpressed wild-type human protein in...
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