Skip to main content Accessibility help
  • Print publication year: 2014
  • Online publication date: October 2014

13 - Rett syndrome

from Section 4 - Social dysfunction and mental retardation

Related content

Powered by UNSILO


Abdala, A.P., Dutschmann, M., Bissonnette, J.M., and Paton, J.F. (2010) Correction of respiratory disorders in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 107: 18208–18213.
Adachi, M., Autry, A.E., Covington, H.E., 3rd., and Monteggia, L.M. (2009) MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. J Neurosci 29: 4218–4227.
Amendola, E., Mattucci, C., Al Banchaabouchi, M., et al. (2012) A mouse model of CDKL5 Rett syndrome. Poster presented at the Fens forum, Jul 14–18 2012, Barcelona.
Amir, R.E., Van den Veyver, I.B., Wan, M., et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185–188.
Ariani, F., Hayek, G., Rondinella, D., et al. (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83: 89–93.
Asaka, Y., Jugloff, D.G., Zhang, L., Eubanks, J.H., and Fitzsimonds, R.M. (2006) Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis 21: 217–227.
Ballas, N., Lioy, D.T., Grunseich, C., and Mandel, G. (2009) Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 12: 311–317.
Belichenko, P.V., Wright, E.E., Belichenko, N.P., et al. (2009) Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. J Compar Neurol 514: 240–258.
Bissonnette, J.M. and Knopp, S.J. (2006) Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Ped Res 59: 513–518.
Blue, M.E., Kaufmann, W.E., Bressler, J., et al. (2011) Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice. Anat Rec 294: 1624–1634.
Blue, M.E., Naidu, S., and Johnston, M.V. (1999) Development of amino acid receptors in frontal cortex from girls with Rett syndrome. Ann Neurol 45: 541–545.
Branchi, I. and Ricceri, L. (2002) Transgenic and knock-out mouse pups: the growing need for behavioral analysis. Genes Brain Behav 1: 135–141.
Brasic, J.R., Bibat, G., Kumar, A., et al. (2012) Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with Rett syndrome. Synapse 66: 471–482.
Braun, S., Kottwitz, D., and Nuber, U.A. (2012) Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome. Hum Mol Genet 21: 1673–1680.
Calfa, G., Percy, A.K., and Pozzo-Miller, L. (2011) Experimental models of Rett syndrome based on Mecp2 dysfunction. Exp Biol Med 236: 3–19.
Catalani, A., Alema, G.S., Cinque, C., Zuena, A.R., and Casolini, P. (2011) Maternal corticosterone effects on hypothalamus-pituitary-adrenal axis regulation and behavior of the offspring in rodents. Neurosci Biobehav Rev 35: 1502–1517.
Cerri, C., Fabbri, A., Vannini, E., et al. (2011) Activation of Rho GTPases triggers structural remodeling and functional plasticity in the adult rat visual cortex. J Neurosci 31: 15163–15172.
Chadwick, L.H. and Wade, P.A. (2007) MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein? Curr Opin Genet Dev 17: 121–125.
Chahrour, M., Jung, S.Y., Shaw, C., et al. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320: 1224–1229.
Chahrour, M. and Zoghbi, H.Y. (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56: 422–437.
Chang, Q., Khare, G., Dani, V., Nelson, S., and Jaenisch, R. (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49: 341–348.
Chao, H.T., Chen, H., Samaco, R.C., et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468: 263–269.
Chen, Q., Zhu, Y.C., Yu, J., et al. (2010) CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 30: 12777–12786.
Chen, R.Z., Akbarian, S., Tudor, M., and Jaenisch, R. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27: 327–331.
Chen, W.G., Chang, Q., Lin, Y., et al. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302: 885–889.
Cohen, S., Gabel, H.W., Hemberg, M., et al. (2011) Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron 72: 72–85.
Collins, A.L., Levenson, J.M., Vilaythong, A.P., et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13: 2679–2689.
Contamin, S., Galmiche, A., Doye, A., et al. (2000) The p21 Rho-activating toxin cytotoxic necrotizing factor 1 is endocytosed by a clathrin-independent mechanism and enters the cytosol by an acidic-dependent membrane translocation step. Mol Biol Cell 11: 1775–1787.
Crawley, J.N. (2004) Designing mouse behavioral tasks relevant to autistic-like behaviors. Ment Retard Dev Dis Res Rev 10: 248–258.
Dastidar, S.G., Bardai, F.H., Ma, C., et al. (2012) Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1. J Neurosci 32: 2846–2855.
De Filippis, B., Fabbri, A., Simone, D., et al. (2012a) Modulation of RhoGTPases improves the behavioral phenotype and reverses astrocytic deficits in a mouse model of Rett syndrome. Neuropsychopharmacology 37: 1152–1163.
De Filippis, B., Ricceri, L., Fuso, A., and Laviola, G. (2012b) Neonatal exposure to low dose corticosterone persistently modulates hippocampal mineralocorticoid receptor expression and improves locomotor/exploratory behaviour in a mouse model of Rett syndrome. Neuropharmacology.
De Filippis, B., Ricceri, L., and Laviola, G. (2010) Early postnatal behavioral changes in the Mecp2–308 truncation mouse model of Rett syndrome. Genes Brain Behav 9: 213–223.
de Leon-Guerrero, S.D., Pedraza-Alva, G., and Perez-Martinez, L. (2011) In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system. Eur J Neurosci 33: 1563–1574.
Deogracias, R., Yazdani, M., Dekkers, M.P., et al. (2012) Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome. Proc Natl Acad Sci USA 109: 14230–14235.
Derecki, N.C., Cronk, J.C., Lu, Z., et al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 484: 105–109.
Diana, G., Valentini, G., Travaglione, S., et al. (2007) Enhancement of learning and memory after activation of cerebral Rho GTPases. Proc Natl Acad Sci USA 104: 636–641.
Einspieler, C., Kerr, A.M., and Prechtl, H.F. (2005) Abnormal general movements in girls with Rett disorder: the first four months of life. Brain Dev 27: S8–S13.
Erlandson, A. and Hagberg, B. (2005) MECP2 abnormality phenotypes: clinicopathologic area with broad variability. J Child Neurol 20: 727–732.
Fyffe, S.L., Neul, J.L., Samaco, R.C., et al. (2008) Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron 59: 947–958.
Gemelli, T., Berton, O., Nelson, E.D., et al. (2006) Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry 59: 468–476.
Giacometti, E., Luikenhuis, S., Beard, C., and Jaenisch, R. (2007) Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci USA 104: 1931–1936.
Gibson, J.H., Slobedman, B., Williamson, S.L., et al. (2010) Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neuroscience 11: 53.
Goffin, D., Allen, M., Zhang, L., et al. (2012) Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci 15: 274–283.
Gonzales, M.L. and LaSalle, J.M. (2010) The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep 12: 127–134.
Govek, E.E., Newey, S.E., and Van Aelst, L. (2005) The role of the Rho GTPases in neuronal development. Genes Dev 19: 1–49.
Grosser, E., Hirt, U., Janc, O.A., et al. (2012) Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome. Neurobiol Dis 48: 102–114.
Guo-Ross, S.X., Clark, S., Montoya, D.A., et al. (2002) Prenatal choline supplementation protects against postnatal neurotoxicity. J Neurosci 22: RC195.
Guy, J., Cheval, H., Selfridge, J., and Bird, A. (2011) The role of MeCP2 in the brain. Ann Rev Cell Dev Biol 27: 631–652.
Guy, J., Gan, J., Selfridge, J., Cobb, S., and Bird, A. (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science 315: 1143–1147.
Guy, J., Hendrich, B., Holmes, M., Martin, J.E., and Bird, A. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27: 322–326.
Hagberg, B. (2002) Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Dis Res Rev 8: 61–65.
Hagberg, B., Aicardi, J., Dias, K., and Ramos, O. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 14: 471–479.
Hagberg, B., Hanefeld, F., Percy, A., and Skjeldal, O. (2002) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paed Neurol 6: 293–297.
Hoffbuhr, K.C., Moses, L.M., Jerdonek, M.A., Naidu, S., and Hoffman, E.P. (2002) Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Dis Res Rev 8: 99–105.
Hutchinson, A.N., Deng, J.V., Cohen, S., and West, A.E. (2012) Phosphorylation of MeCP2 at Ser421 contributes to chronic antidepressant action. J Neurosci 32: 14355–14363.
Ide, S., Itoh, M., and Goto, Y. (2005) Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse. Neurosci Lett 386: 14–17.
Ilieva, H., Polymenidou, M., and Cleveland, D.W. (2009) Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J Cell Biol 187: 761–772.
Jentarra, G.M., Olfers, S.L., Rice, S.G., et al. (2010) Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci 11: 19.
Johnson, R.A., Lam, M., Punzo, A.M., et al. (2012) 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome. J Appl Physiol 112: 704–710.
Jones, P.L., Veenstra, G.J., Wade, P.A., et al. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19: 187–191.
Jost, K.L., Rottach, A., Milden, M., et al. (2011) Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies. PLoS One 6: e26499.
Jugloff, D.G., Vandamme, K., Logan, R., et al. (2008) Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Hum Mol Genet 17: 1386–1396.
Katz, D.M., Berger-Sweeney, J.E., Eubanks, J.H., et al. (2012) Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech 5: 733–745.
Kondo, M., Gray, L.J., Pelka, G.J., et al. (2008) Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome – Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci 27: 3342–3350.
Kriaucionis, S., Paterson, A., Curtis, J., et al. (2006) Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol 26: 5033–5042.
Lawson-Yuen, A., Liu, D., Han, L., et al. (2007) Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res 1180: 1–6.
Lee, H., Dvorak, D., Kao, H.Y., et al. (2012) Early cognitive experience prevents adult deficits in a neurodevelopmetnal schizophrenia model. Neuron 75: 714–724.
Lemichez, E., Flatau, G., Bruzzone, M., Boquet, P., and Gauthier, M. (1997) Molecular localization of the Escherichia coli cytotoxic necrotizing factor CNF1 cell-binding and catalytic domains. Mol Microbiol 24: 1061–1070.
Lioy, D.T., Garg, S.K., Monaghan, C.E., et al. (2011) A role for glia in the progression of Rett’s syndrome. Nature 475: 497–500.
Lonetti, G., Angelucci, A., Morando, L., et al. (2010) Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry 67: 657–665.
Macri, S., Zoratto, F., and Laviola, G. (2011) Early-stress regulates resilience, vulnerability and experimental validity in laboratory rodents through mother-offspring hormonal transfer. Neurosci Biobehav Rev 35: 1534–1543.
Maezawa, I., Calafiore, M., Wulff, H., and Jin, L.W. (2012) Does microglial dysfunction play a role in autism and Rett syndrome? Neuron Glia Biol1–13.
Maezawa, I. and Jin, L.W. (2010) Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J Neurosci 30: 5346–5356.
Maezawa, I., Swanberg, S., Harvey, D., LaSalle, J.M., and Jin, L.W. (2009) Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 29: 5051–5061.
Mari, F., Azimonti, S., Bertani, I., et al. (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 14: 1935–1946.
Marschik, P.B., Einspieler, C., and Sigafoos, J. (2012a) Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception. Res Dev Disabil 33: 461–466.
Marschik, P.B., Sigafoos, J., Kaufmann, W.E., et al. (2012b) Peculiarities in the gestural repertoire: an early marker for Rett syndrome? Res Dev Disabil 33: 1715–1721.
Martinowich, K., Hattori, D., Wu, H., et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302: 890–893.
Matrisciano, F., Tueting, P., Maccari, S., Nicoletti, F., and Guidotti, A. (2012) Pharmacological activation of group-II metabotropic glutamate receptors corrects a schizophrenia-like phenotype induced by prenatal stress in mice. Neuropsychopharmacology 37: 929–938.
McGill, B.E., Bundle, S.F., Yaylaoglu, M.B., et al. (2006) Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 103: 18267–18272.
McGraw, C.M., Samaco, R.C., and Zoghbi, H.Y. (2011) Adult neural function requires MeCP2. Science 333: 186.
McKinney, W.T. (1984) Animal models of depression: an overview. Psychiatric Dev 2: 77–96.
Meck, W.H. and Williams, C.L. (2003) Metabolic imprinting of choline by its availability during gestation: implications for memory and attentional processing across the lifespan. Neurosci Biobehav Rev 27: 385–399.
Medrihan, L., Tantalaki, E., Aramuni, G., et al. (2008) Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. J Neurophysiol 99: 112–121.
Miyamoto, Y., Yamauchi, J., Tanoue, A., Wu, C., and Mobley, W.C. (2006) TrkB binds and tyrosine-phosphorylates Tiam1, leading to activation of Rac1 and induction of changes in cellular morphology. Proc Natl Acad Sci USA 103: 10444–10449.
Moretti, P., Bouwknecht, J.A., Teague, R., Paylor, R., and Zoghbi, H.Y. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet 14: 205–220.
Moretti, P., Levenson, J.M., Battaglia, F., et al. (2006) Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci 26: 319–327.
Mount, R.H., Hastings, R.P., Reilly, S., Cass, H., and Charman, T. (2001) Behavioural and emotional features in Rett syndrome. Disabil Rehab 23: 129–138.
Murgatroyd, C., Patchev, A.V., Wu, Y., et al. (2009) Dynamic DNA methylation programs persistent adverse effects of early-life stress. Nat Neurosci 12: 1559–1566.
Nag, N. and Berger-Sweeney, J.E. (2007) Postnatal dietary choline supplementation alters behavior in a mouse model of Rett syndrome. Neurobiol Dis 26: 473–480.
Nag, N., Mellott, T.J., and Berger-Sweeney, J.E. (2008) Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. Brain Res 1237: 101–109.
Nag, N., Moriuchi, J.M., Peitzman, C.G., et al. (2009) Environmental enrichment alters locomotor behaviour and ventricular volume in Mecp2 1lox mice. Behav Brain Res 196: 44–48.
Napoli, I., Blusztajn, J.K., and Mellott, T.J. (2008) Prenatal choline supplementation in rats increases the expression of IGF2 and its receptor IGF2R and enhances IGF2-induced acetylcholine release in hippocampus and frontal cortex. Brain Res 1237: 124–135.
Nguyen, M.V., Du, F., Felice, C.A., et al. (2012) MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain. J Neurosci 32: 10021–10034.
Nissenkorn, A., Gak, E., Vecsler, M., et al. (2010) Epilepsy in Rett syndrome – the experience of a National Rett Center. Epilepsia 51: 1252–1258.
Ogier, M., Wang, H., Hong, E., et al. (2007) Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci 27: 10912–10917.
Panayotis, N., Ghata, A., Villard, L., and Roux, J.C. (2011) Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain. BMC Neurosci 12: 47.
Pavone, F., Luvisetto, S., Marinelli, S., et al. (2009) The Rac GTPase-activating bacterial protein toxin CNF1 induces analgesia up-regulating mu-opioid receptors. Pain 145: 219–229.
Picker, J.D., Yang, R., Ricceri, L., and Berger-Sweeney, J. (2006) An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport 17: 541–544.
Pobbe, R.L., Pearson, B.L., Blanchard, D.C., and Blanchard, R.J. (2012) Oxytocin receptor and Mecp2(308/Y) knockout mice exhibit altered expression of autism-related social behaviors. Physiol Behav 107: 641–648.
Ramakers, G.J. (2002) Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci 25: 191–199.
Ramocki, M.B., Tavyev, Y.J., and Peters, S.U. (2010) The MECP2 duplication syndrome. Am J Med Genet A 152A: 1079–1088.
Rett, A. (1966) On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 116: 723–726.
Ricceri, L. and Berger-Sweeney, J. (1998) Postnatal choline supplementation in preweanling mice: sexually dimorphic behavioral and neurochemical effects. Behav Neurosci 112: 1387–1392.
Ricceri, L., De Filippis, B., Fuso, A., and Laviola, G. (2011) Cholinergic hypofunction in MeCP2–308 mice: beneficial neurobehavioural effects of neonatal choline supplementation. Behav Brain Res 221: 623–629.
Ricceri, L., De Filippis, B., and Laviola, G. (2008) Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches. Behav Pharmacol 19: 501–517.
Ricceri, L., De Filippis, B., and Laviola, G. (2013) Rett syndrome treatment in mouse models: searching for effective targets and strategies. Neuropharmacology 68: 106–115.
Roux, J.C., Dura, E., Moncla, A., Mancini, J., and Villard, L. (2007) Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci 25: 1915–1922.
Samaco, R.C., Mandel-Brehm, C., Chao, H.T., et al. (2009) Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci USA 106: 21966–21971.
Sanders, L.M. and Zeisel, S.H. (2007) Choline: dietary requirements and role in brain development. Nutrition Today 42: 181–186.
Santos, M., Silva-Fernandes, A., Oliveira, P., Sousa, N., and Maciel, P. (2007) Evidence for abnormal early development in a mouse model of Rett syndrome. Genes Brain Behav 6: 277–286.
Schaevitz, L.R., Moriuchi, J.M., Nag, N., Mellot, T.J., and Berger-Sweeney, J. (2010) Cognitive and social functions and growth factors in a mouse model of Rett syndrome. Physiol Behav 100: 255–263.
Schaevitz, L.R., Nicolai, R., Lopez, C.M., et al. (2012) Acetyl-L-carnitine improves behavior and dendritic morphology in a mouse model of rett syndrome. PLoS One 7: e51586.
Schmid, D.A., Yang, T., Ogier, M., et al. (2012) A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. J Neurosci 32: 1803–1810.
Schmidt, G., Sehr, P., Wilm, M., et al. (1997) Gln 63 of Rho is deamidated by Escherichia coli cytotoxic necrotizing factor-1. Nature 387: 725–729.
Shahbazian, M., Young, J., Yuva-Paylor, L., et al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 243–254.
Stearns, N.A., Schaevitz, L.R., Bowling, H., et al. (2007) Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience 146: 907–921.
Stettner, G.M., Huppke, P., Brendel, C., et al. (2007) Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2–/y knockout mice. J Physiol 579: 863–876.
Swinny, J.D. and Valentino, R.J. (2006) Corticotropin-releasing factor promotes growth of brain norepinephrine neuronal processes through Rho GTPase regulators of the actin cytoskeleton in rat. Eur J Neurosci 24: 2481–2490.
Tropea, D., Giacometti, E., Wilson, N.R., et al. (2009) Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA 106: 2029–2034.
van Galen, E.J. and Ramakers, G.J. (2005) Rho proteins, mental retardation and the neurobiological basis of intelligence. Prog Brain Res 147: 295–317.
Viemari, J.C., Roux, J.C., Tryba, A.K., et al. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 25: 11521–11530.
Wang, I.T., Allen, M., Goffin, D., et al. (2012) Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proc Natl Acad Sci USA 109: 21516–21521.
Weng, S.M., McLeod, F., Bailey, M.E., and Cobb, S.R. (2011) Synaptic plasticity deficits in an experimental model of Rett syndrome: long-term potentiation saturation and its pharmacological reversal. Neuroscience 180: 314–321.
Wenk, G.L. and Hauss-Wegrzyniak, B. (1999) Altered cholinergic function in the basal forebrain of girls with Rett syndrome. Neuropediatrics 30: 125–129.
Wong-Goodrich, S.J., Mellott, T.J., Glenn, M.J., Blusztajn, J.K., and Williams, C.L. (2008) Prenatal choline supplementation attenuates neuropathological response to status epilepticus in the adult rat hippocampus. Neurobiol Dis 30: 255–269.
Zanella, S., Mebarek, S., Lajard, A.M., et al. (2008) Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. Resp Physiol Neurobiol 160: 116–121.