Anthony Antonellis, Ph.D.
Associate Professor of Human Genetics
Associate Professor of Neurology
Our overarching objective is to understand the development and diseases of the peripheral nervous system, the latter including Charcot-Marie-Tooth (CMT) disease. CMT is a relatively common peripheral neuropathy that mainly affects motor and sensory function in the extremities (feet, lower legs, and hands). The major types of CMT are those that affect myelinating Schwann cells (CMT1) and those that affect peripheral nerve axons (CMT2).
Our efforts are divided into two major areas: (1) Determining the role of tRNA charging enzymes in peripheral neuropathy; and (2) Characterizing genes important for Schwann cell development and function.
Please visit http://hg.med.umich.edu/labs/antonellis/Antonellis_Laboratory/Projects.html for a description of the projects in our laboratory
For complete list see: http://hg.med.umich.edu/labs/antonellis/Antonellis_Laboratory/Publicatio...
Griffin, L.B., Sakaguchi, R., McGuigan, D., Gonzalez, M.A., Searby, C., Züchner, S., Hou, Y.-M., and Antonellis, A. 2014. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat, In Press.
Brewer, M.H., Ma, K.H., Beecham, G.W., Gopinath, C., the Inherited Neuropathy Consortium (INC), Baas, F., Choi, B-.O., Reilly, M.M., Shy, M.E., Züchner, S., Svaren, J., and Antonellis, A. 2014. Haplotype-Specific Modulation of a SOX10/CREB Response Element at the Charcot-Marie-Tooth Disease Type 4C Locus SH3TC2. Hum Mol Genet. [Epub ahead of print].
Wallen, R.C., and Antonellis, A. 2013. To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations. Curr Opin Genet Dev, 23, 302-309.
Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Roda, R.H., Fischbeck, K.H., Biesecker, L.G., Nicholson, G., Beg, A.A., and Antonellis, A. 2013. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutat, 34, 191-199.
Jones, E.A., Brewer, M.H., Srinivasan, R., Krueger, C., Sun, G., Charney, K.N., Keles, S., Antonellis, A., and Svaren, J. 2012. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet, 21, 1581-1591.
Hodonsky, C.J., Kleinbrink, E.L., Charney, K.N., Prasad, M., Bessling, S.L., Jones, E.A., Srinivasan, R., Svaren, J., McCallion, A.S., and Antonellis, A. 2012. SOX10 Regulates Expression of the SH3-Domain Kinase Binding Protein 1 (Sh3kbp1) locus in Schwann Cells via an Alternative Promoter. Mol Cell Neurosci, 49, 85-96.
McLaughlin, H.M., Sakaguchi, R., Giblin, W., NIH Intramural Sequencing Center, Wilson, T.E., Biesecker, L., Lupski, J.R., Talbot, K., Vance, J.M., Züchner, S., Lee, Y.C., Kennerson, M., Hou, Y.M., Nicholson, G., and Antonellis, A. 2012. A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N). Hum Mutat, 33, 244-253.