Miriam Meisler Ph.D.
| 4808 Medical Science Building II 0618 |
| Ann Arbor, MI 48109 |
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Our laboratory studies mutant mice in order to isolate genes responsible for neurological disease. We have discovered that ion channel mutations produce a broad spectrum of neurological dysfunction, including ataxia, dystonia, absence epilepsy, and progressive paralysis. We have mapped and characterized the corresponding human genes, and we are carrying out mutation screening in human patients with related disorders. By studying mice that are lacking a single ion channel, we can learn a great deal about the normal in vivo role of that channel. We are also generating transgenic mice with mutant channels in order to probe structure/function relationships and to evaluate the neurological consequences of specific changes in ion channel domains.
Lu, W., Phillips, C.L., Killen, P.D., Hlaing, T., Harrison, W.R., Elder, F.F.B., Miner, J.H., Overbeek, P.A., Meisler, M.H.: Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics 61: 113-124, 1999.
Escayg, A., MacDonald, B.T., Meisler, M.H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., Buresi C., and Malafosse, A.: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics 24: 343-345, 2000.
Jones, J.M., Datta, P., Srinivasula, S.M., Ji, W., Gupta, S., Zhang, Z., Davies, E., Hajnóczky, G., Saunders, T.L., Van Keuren, M.L., Fernandes-Alnemri, T., Meisler, M.H.; Alnemri, E.S. (2003) Loss of Omi/HtrA2 protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature 425: 721-727.
Buchner, D. A., Trudeau, M., Meisler, M. H. (2003) SCNM1, a putative RNA splicing factor that modifies disease severity in the mice. Science 301: 967-969.
Drews, VL, Lieberman, AP, and Meisler, MH (2004) Multiple transcripts of sodium channel SCN8A (NaV1.6) with alternative 5' and 3' UTRs and initial characterization of the SCN8A promoter. Genomics, in press.
Spampanato, J., Kearney JA, de Haan, G., McEwen, D., Escayg, A., Aradi, I., MacDonald, BT, Levin, SI, Soltesz, I, Benna, P., Montalenti, E., Isom, L., Goldin, A., and Meisler, M. H. (2004) A novel GEFS+ mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J. Neurosci. in press.
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