Article
Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 21 Aug 2013
Garg Saurabh K, Lioy Daniel T, Cheval Hélène, McGann James C, Bissonnette John M, Murtha Matthew J, Foust Kevin D, Kaspar Brian K, Bird Adrian, Mandel Gail
Abstract excerpt
De novo mutations in the X-linked gene encoding the transcription factor methyl-CpG binding protein 2 (MECP2) are the most frequent cause of the neurological disorder Rett syndrome (RTT). Hemizygous males usually die of neonatal encephalopathy. Heterozygous females survive into adulthood but exhibit severe symptoms including microcephaly, loss of purposeful hand motions and speech, and motor abnormalities, which...
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