Publications - Rett Syndrome
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Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome. Kaufmann, W.E., Naidu ,S. and Budden, S. Neuropediatrics 26: 109-113, 1995. [paper]
Abnormalities in neuronal maturation in Rett syndrome neocortex: molecular correlates. Hand in hand with Rett syndrome. Kaufmann, W.E. Taylor, C.V., Hohmann, C.F., Sanwal, I.B., Israel, J.J. and Naidu, S. World Congress on Rett Syndrome. Gothenburg, Sweden, August, 1996. [abstract]
Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates. Kaufmann, W.E., Taylor, C.V., Hohmann, Sanwal, I.B. and Naidu, S. Eur. Child Adolesc. Psychiatry 6 (Suppl. 1): 75-77, 1997. [paper]
Altered cholinergic function in the basal forebrain of girls with Rett syndrome. Wenk, G.L. and Hauss-Wegrzyniak, B. Neuropediatrics 30:125-129, 1999. [paper]
Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome. Blue, M.E., Naidu, S. and Johnston, M.V. Exper. Neurol. 156:345-352, 1999. [paper]
Altered glutamate and GABA receptor expression in cerebral cortex in Rett syndrome and in a mouse model for Rett syndrome. Wallace, S.A., Johnston, M.V., Hohmann, C.F., Naidu, S. and Blue, M.E. SFN, 23: 78, 1997. [abstract]
Changes in excitatory and inhibitory neurotransmitter receptors in Rett syndrome and in a mouse model for Rett syndrome. Blue, M.E., Hohmann, C.F., Wallace, S.A., Naidu, S. and Johnston, M.V. World Congress on Rett Syndrome, Aug 30 - Sept 1, 1996. [abstract]
Characteristic patterns of dendritic protien expression in Down and Rett syndromes. Kaufmann, W.E., Taylor, C.V., and Israel, J.J. Ann. Neurol. 40:287A-288A, 1996. [abstract]
Cortical development in Rett syndrome: molecular, neurochemical, and anatomical aspects. Kaufmann, W.E. Rett Disorder and the Developing Brain, Chapter 4: 85-110, 2005. [paper]
Cyclooxygenase 2 expression during rat neocortical development and in Rett syndrome. Kaufmann, W.E., Worley, P.F., Taylor, C.V., Bremer, M. and Isakson, P.C. Brain Develop. 19:25-34, 1997. [paper]
Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. Kaufmann, W.E., MacDonald, S.M. and Altamura, C.R. Cerebral Cortex 10:992-1004, 2000. [paper]
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett snydrome brain and after expression of Rett-associated MECP2 mutations. Chapleau, C., Calfa, G., Lane, M., Albertson, A., Larimore, J., Kudo, S., Armstrong, D., Percy, A. and Pozzo-Miller, L. Neurobiology of Disease 35: 219-233, 2009. [paper]
Development of amino acid receptors in frontal cortex from girls with Rett syndrome. Blue, M.E., Naidu, S. and Johnson, M. Ann. Neurol. 45:541-545, 1999. [paper]
Developmental pathology of the cortex in Rett syndrome. Kaufmann, W.E. Intl. Child Neurology Association and Child Neurology, 1994. [abstract]
Dynamic changes in histone H3 lysine 9 acetylation localizaiton patterns during neuronal maturation require MeCP2. Thatcher, K. and LaSalle, J. 7th Annual Rett Syndome Symposium, Chicago, IL, 2006. [abstract]
Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Balmer, D., Goldstine, J., Rao, Y.M., and LaSalle, J. J. Mol. Med. 81: 61-68, 2002. [paper]
Evidence for paternal allele-specific chromatin extension and looping of the SNRPN to UBE3A locus in mature neurons by fluorescence in situ hybridization. Thatcher, K., Vallero, R. and LaSalle, J. ASHG, 2006. [abstract]
Excitatory and inhibitory neurotransmitter receptor expression is altered in Rett syndrome and in a mouse model for Rett syndrome. Blue, M.E., Hohmann, C.F., Wallace, S.A., Naidu, S. and Johnston, M.V. SFN, 22:1168, 1996. [abstract]
Gene expression profiling in postmortem Rett Syndrome brain: differntial gene expression and patient classification. Colantuoni, C., Jeon, O.-H., Hyder, K., Chencik, A., Khimani, A.H., Narayanan, V., Hoffman, E.P., Kaufmann, W.E., Naidu, S. and Pevsner, J. Neurobiology of Disease 8, 847-865, 2001. [paper]
Glutamate receptor density is decreased in basal ganglia of patients with Rett syndrome. Blue, M.E., Naidu, S., Moser, H. and Johnston, M.V. SFN, 21:735, 1995. [abstract]
Inhibitors of differentiation (ID1, ID2, ID3, ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Peddada, S., Yasui, H. and LaSalle, J. Hum Mol Genet 15: 2003-2014, 2006. [paper]
Is Rett syndrome a subplate disease? Kaufmann, W.E. and Naidu, S. Soc. for Neuroscience Meeting, Abstract #293.10, 1995. [abstract]
McEP2 deficiency in Rett Syndrome causes epigenetic aberrations a the PWS/AS imprinting center that afects UBE3A expression. Makedonski, K., Abuhatzira, L, Kaufman, Y., Razin, A. and Shemer, R. HMG 14: 1049-1058, 2005. [paper]
MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production. Abuhatzira, L., Makedonski, K., Kaufman, Y, Razin, A. and Shemer, R. Epigenetics 2:4, 214-222, 2007. [paper]
MeCP2 deficiency in the brain decreases BDNF levels by REST/CoRest-mediated repression and increases TRKB production. Abuhatzira, L., Makedonski, K., Kaufman, Y., Razin, A. and Shemer, R. Epigenetics 2:4, 1-9, 2007. [paper]
MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher molecular weight form. Jarrar, M., Danko, C., Reddy, S., Lee, Y., Bibat, G. and Kaufmann, W. J. Child Neurol. 18: 675-682, 2003. [paper]
MeCP2 expression in human neocortex. Kaufmann, W.E., Jarrar, M.H. and MacDonald, S.M. Brain Dev. 24:392, 2002. [paper]
MeCP2 involvement in the regulation of neuronal a-tubulin production. Abuhatzira, L., Shemer, R. and Razin, A. HMG 18: 1-9, 2000. [paper]
Methy-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Aber, K.M., Nori, P., MacDonald, S., Bibat, G., Jarrar, M.H., and Kaufmann, W.E. Neuroscience 116: 77-80, 2003. [paper]
Ocular MECP2 protein expression in patients with and without Rett Syndrome. Jain, D., Singh, K., Chirumamilla, S., Bibat, G.M., Blue, M.E., Naidu, S.R., Eberhart, C.G. Pediatric Neurology 43(1): 35-40, 2010. [paper]
Phenotypic consequences of mosaic MeCP2 high expression in cerebral cortical neurons: a comparison of normal and Rett brains. LaSalle, J.M., Goldstine, J. Balmer, D., and Greco, C.M. American Journal of Human Genetics, 69:598 2001. [abstract]
The parasoxical role of methyl CpG-binding protein 2 (MeCP2) in Rett syndrome. LaSalle, J.M., Goldstine, J., Balmer, D. and Greco, C.M. Biochemistry and Cell Biology 80:382, 2002. [abstract]
X-Chromosome inactivation ratios affect wild-type McEp2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Braunschweig, D., Simcox, T., Samaco, R. and LaSalle, J. Human Molecular Genetics 13: 1275-1286, 2004. [paper]