Klann LAB Projects

Fragile X Syndrome

Cellular and molecular basis of synaptic dysfunction and aberrant behavior in FXS

For the last ten years our laboratory has been determining the molecular basis for dysregulated protein synthesis in fragile X syndrome (FXS) and how altered translation contributes to altered synaptic plasticity aberrant behavior in FXS model mice. We recently have extended our studies on altered translational control in FXS to studies of cells and iPSC-derived neurons from FXS individuals.

Selected important publications since 2006:

Hou, L., Antion, M.D., Hu, D., Spencer, C.M., Paylor, R.E., and Klann, E. (2006) Dynamic translational and proteasomal regulation of the fragile X mental retardation protein controls metabotropic glutamate receptor-dependent long-term depression. Neuron 51: 441-454.

Sharma, A., Hoeffer, C.A., Takayasu, Y., Miyawaki, T., McBride, S.M., Klann, E., and Zukin, R.S. (2010) Dysregulation of mTOR signaling in fragile X syndrome. J. Neurosci. 30: 694-702. PMCID: PMC3665010

Bhattacharya, A., Kaphzan, H., Alvarez-Dieppa, A.C., Murphy, J.P., Pierre, P., and Klann, E. (2012) Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron 76: 325-337. PMCID: PMC3479445

Bhattacharya, A., Mamcarz, M., Mullins, C., Choudhury, A., Boyle, R.G., Smith, D.G., Walker, D.W., and
Klann, E. (2016) Targeting translation control with p70 S6 kinase 1 inhibitors to reverse phenotypes in fragile x syndrome mice. Neuropsychopharmacology 41:1991-2000. PMCID: PMC4908636