1Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein2. Nat Genet, 1999, 23:185-188.
2Percy AK, Lane JB. Rett syndrome: clinical and molecular update.Current opinion in Pediatrics, 2004, 16 : 670-677.
3Mnatzakanian GN, Lohi H, Munteanu J, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet, 2004, 36:339-341.
4fWeaving LS, Ellaway CJ, G6cz J, et al. Rett syndrome: clinical review and genetic update. Med Genet, 2005, 42:1-7.
5Buschdorf JP, Stratling WH. A ww domain binding region in methyl-CpG binding protein MeCP2: impact on Rett syndrome. J Mol Med,2004, 82:135-143.
6Kriaucionis S, Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic acids Res, 2004,32: 1818-1823.
7Mullaney BC, Johnston MV, Blue ME. Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain. Neuroscience. 2004. 123:939-949.
8Balmer D, Goldstine J, Rao YM, et al. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J Mol Med, 2003, 81:61-68.
9Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science, 2003, 302:826-830.
10Aber KM, Nofi P, Macdonald SM, et al. Methyl-CpG-binding protein2 is localized in the postsynaptic compartment: an immunochemical study of subcdlular fractions. Neurosci, 2003,116 : 77-80.
2Garber K. 2007. Autism's cause may reside in abnormalities at the synapse. Science, 317(5835) :190 ~ 191.
3Blundell J, Blaiss CA, Etherton MR, et al. 2010. Neureligin- 1 deletion results in impaired spatial memory and increased repetitive behavior. The Journal of Neuroscience, 30(6) :2115 -2129.
4Tabuchi K, Blundell J, Etherton MR, et al. 2007. A neuroligin - 3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science, 318(5847) : 71 ~ 76.
5Deth R, Muratore C, Benzecry J, et al. 2008. How environmental and genetic factors combine to cause autism: A red ox/methylation hypothesis. Neurotoxicology, 29( 1 ) : 190 -201.
