Klann LAB Projects

Neurodevelopmental Disorders

Cellular and molecular basis of synaptic dysfunction and aberrant behavior in autism, tuberous sclerosis complex, and Angelman syndrome

In addition to fragile X syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long-lasting synaptic plasticity and memory are altered in mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman syndrome. We also have been developing new mouse models with altered translation control and have found that they exhibit a range of autistic endophenotypes.

Selected important publications since 2013:

Kaphzan, H., Buffington, S.A., Jung, J.I., Rasband, M.N., and Klann, E. (2011) Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. J. Neurosci. 31: 17637-17648. PMCID: PMC3483031

Santini, E., Huynh, T.N., MacAskill, A.F., Carter, A.G., Pierre, P., Ruggero, D., Kaphzan, H., and Klann, E. (2013) Exaggerated translation causes synaptic and behavioral aberrations associated with autism. Nature 493: 411-415. PMCID: PMC3548017

Kaphzan, H., Buffington, S.A., Ramaraj, A.B., Lingrel, J.B., Rasband, M.N., Santini, E., and Klann, E. (2013) Genetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome mice. Cell Rep. 4: 1-8. PMCID: PMC3756897

Santini, E., Turner, K.L., Ramaraj, A.B., Klann, E.*, and Kaphzan, H.* (2015) Mitochondrial superoxide contributes to hippocampal synaptic dysfunction and memory deficits in Angelman syndrome model mice. J. Neurosci. 35: 16213-16230. *equal contribution. PMCID: PMC4682786