Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

@article{Collins2004MildOO,
  title={Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.},
  author={Ann L. Collins and Jonathan M. Levenson and Alexander P Vilaythong and Ronald Richman and Dawna La-Vina Duncan Armstrong and Jeffrey L Noebels and J David Sweatt and Huda Y. Zoghbi},
  journal={Human molecular genetics},
  year={2004},
  volume={13 21},
  pages={2679-89}
}
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 transgenic mice using a large genomic clone containing the entire human MECP2 locus… CONTINUE READING
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