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Biochemistry & Cell Biology
HomeFacultyFaculty ProfilesNurit Ballas

Nurit Ballas, Ph.D.

ballasResearch Professor
Department of Biochemistry and Cell Biology

Life Sciences Building
Stony Brook University
Stony Brook, NY 11794-5215
Office telephone: 631-632-1572
Fax: 631-632-8575

E-mail: nballas@notes.cc.sunysb.edu

  • Research and Publications

    Research description: 

    My area of expertise is centered on regulation of gene expression by specific transcription factors during brain development and the implications of their loss on brain function and manifestation of neurological disorders. For many years, my lab has been studying the roles of the transcriptional repressor REST in CNS development. REST is a master regulator of a large network of genes involved in acquisition of neural fate and its dysregulation has been implicated in several neurological disorders. Currently, we focus on the mechanism that underlies Rett syndrome (RTT), a progressive neurodevelopmental disorder caused by mutations in the MECP2 gene. We examine the cellular and molecular mechanism(s) by which the loss of the MeCP2 function manifests as neurological symptoms at a specific developmental stage, and the non-cell autonomous effect of glia in manifestation and rescue of RTT. Our studies have used different mouse models for RTT, and in the past four years, we have also established human pluripotent stem cell lines bearing different RTT-causing mutations in MECP2 to model and analyze human RTT, specifically neuron-glia interactions.

    Selected publications:

    Ballas, N., Lioy, D.T., Grunseich, C., and Mandel, G. (2009) Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology: a cellular model for Rett Syndrome. Nat. Neurosci.12, 311-3174.

    Lioy, D. T., Monaghan, C., Hirrlinger, F.K., Bissonnete, J.M., Ballas, N., and Mandel, G. (2011) A role for glia in progression of Rett’s Syndrome. Nature,475, 497-500.

    Nguyen, M.V.C., Du, F., Felice, C.A., Nigam, A., Mandel, G., Robinson,J.K., and Ballas, N. (2012)MeCP2 is critical for maintaining the mature neuronal networks and global brain anatomy during late stages of postnatal brain development. J. Neurosci. 32, 10021-10034.

    Nguyen, M.V.C, Felice, C.A., Du, F., Covey, M.V., Robinson,J.K., Mandel, G., and Ballas, N. (2013)    Oligodendrocyte lineage cells contribute unique features to Rett Syndrome neuropathology. J. Neurosci. 33, 18764-187745.

    Du, F., Nguyen, M.V.C, Karten, A., Felice, C.A., Mandel, G., and Ballas, N. (2016) Acute and crucial requirement for MeCP2 function upon transition from early to late adult stage of brain maturation. Hum. Molec. Genet. 25, 1690-17026.

    OsenbergS., Karten, A.,Charkowick, S., Li, J., Sun, J., Felice, C.A., Kritzer, M., Nguyen, M.V.C., Yu, P., and Ballas, N. (2018) Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome. Proc. Natl. Acad. Sci. USA,115 E5363-E5372.

    Sun, J., Osenberg, S., Irwin A, Ma, L-H., Lee, N., Xiang Y., Li, F., Wan., Y-W., Park., I-H., Maletic-Savatic, M., and Ballas, N. (2023) Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation. Cell Rep. 42,111942.

     

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