As Veredas da Síndrome de Rett
Do Diagnóstico Clínico aos Estudos Funcionais
DOI:
https://doi.org/10.34024/rnc.2012.v20.8271Palavras-chave:
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Referências
Splendore A, Rocha KM, Takahashi VNVO, Zatz M, Passos-Bueno MR. Centro de Estudos do Genoma Humano: Seis Anos de Experiência no Diagnóstico Molecular da Síndrome de Rett. Rev Neurocienc 2012;20(2):194-199.
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8. http://dx.doi.org/10.1038/13810
Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, et al. A model for neural development and treatment of Rett syndrome using human pluripotent stem cells. Cell 2010;143:527-39. http://dx.doi.org/10.1016/j.cell.2010.10.016
Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002;35:243-54. http://dx.doi.org/10.1016/S0896-6273(02)00768-7
Gemelli T, Berton O, Nelson ED, Perrotti LI, Jaenisch R, Monteggia LM. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psichiatr 2006;59:468-76. http://dx.doi.org/10.1016/j.biopsych.2005.07.025
