My main interest is the pathogenesis of demyelinating diseases, particularly those caused by mutations in the genes that encode the gap junction proteins Cx32 and Cx47. My current projects in my scientific laboratory relate to (1) the role of Cx32 in the pathogenesis of inherited demyelinating neuropathy, (2) how gap junctions between astrocytes and oligodendrocytes affect the structure/function of CNS myelin, (3) how the myelin sheath organizes the structure of the axon, and (4) animal models of inherited neuropathies. In the clinic, I also participate in a large effort in finding new genetic causes of inherited neuropathies.
The diagnosis and management of peripheral neuropathies.
Clinical electrophysiology - EMG
Caramins, M., J.G. Colebatch, M.N. Bainbridge, S.S. Scherer, C.K. Abrams, E.L. Hackett, M.M. Freidin, S.N. Jhangiani, M. Wang, Y. Wu, D.M. Muzny, R. Lindeman, R.A. Gibbs. : Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. (in press)., 2013.
Fleisher, J., M. Richie, R. Price, S.S. Scherer, J. Dalmau, and E. Lancaster : Acquired neuromyotonia heralding recurrent thymoma in myasthenia gravis. Arch. Neurol. (in press), 2013.
Abrams, C.K. and S.S. Scherer : Gap junctions in inherited disorders of the central nervous system. Biochim. Biophys. Acta 1818: 2030-2047, 2012.
Scherer, S.S., M.-L. Feltri, and L. Wrabetz : Genetic Mutations Affecting Myelin Formation. Neuroglia. H. Kettenmann and B.R. Ransom (eds.). Oxford University Press Page: 798-808, 2012.
Kleopa K.A., Abrams C.K., and Scherer S.S. : How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? Brain Res. 1487: 198-205, 2012.
Scherer, S.S. and K.A. Kleopa : X-linked Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 17S: 9-13, 2012.
Ferguson, T.A. and S.S. Scherer : N-cadherin (NCAD) is required for optimal sensory neurite outgrowth on astrocytes. Neurosci. Lett. 522: 108-112, 2012.
King, C.H. and S.S. Scherer : Kv7.5 is the primary Kv7 subunit expressed in C-fibers. J. Comp. Neurol. 520: 1940-1950, 2012.
Murphy, S.M., D.N. Herrmann, M.P. McDermott, S.S. Scherer, M.E. Shy, M.M. Reilly, D. Pareyson : Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 16: 191-198, 2011.
Zhai, J., W. Zhou, J. Li, C.R. Hayworth, L. Zhang, H. Misawa, R. Klein, S.S. Scherer, R.J. Balice-Gordon, R.J. Kalb : The in vivo contribution of motor neuron TrkB receptors to mutant SOD motor neuron disease. Hum. Mol. Genet. 20: 4116-4131. 2011.
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Last updated: 08/07/2013
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