Anthony Antonellis , Ph.D.
Assistant Professor of Human Genetics
Assistant 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://web.me.com/aagenetics/Antonellis_Laboratory/Projects.html for a description of the projects in our laboratory
Please visit http://web.me.com/aagenetics/Antonellis_Laboratory/Publications.html for an up-to-date list of our laboratory's publications.
Recent Publications:
2012
Jones, E.A., Brewer, M.H., Srinivasan, R., Krueger, C., Sun, G., Charney, K.N., Keles, S., Antonellis, A., and Svaren, J. 2011. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet, in press.
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.
2011
Lin, K.-P., Soong, B.-W., Yang, C.-C., Huang, L.-W., Chang, M.-H., Lee, I.-H., Antonellis, A., and Lee, Y.-C. 2011. The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan. PLOS One, in press.
Motley, W.M., Seburn, K.L., Nawaz, M.H., Miers, K.E., Cheng, J., Antonellis, A., Green, E.D., Talbot, K., Yang, X.L., Fischbeck, K.H., and Burgess, R.W. 2011. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild type GARS levels. PLOS Genet, 7, e1002399.
Prasad, M.K., Reed, X., Gorkin, D.U., Cronin, J.C., McAdow, A.R., Chain, K., Hodonsky, C.J., Jones, E.A., Svaren, J.P., Antonellis, A., Johnson, S.L., Loftus, S.K., Pavan, W.J., and McCallion, A.S. 2011. SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. BMC Dev Biol, 11, 40.
Nguyen, D.K., Yang, F., Kaul, R., Alkan, C., Antonellis, A., Friery, K.F., Zhu, B., de Jong, P.J., and Disteche, C.M. 2011. Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X. Genome Res, 21, 402-409.
Stum, M., McLaughlin, H.M., Kleinbrink, E.L., Miers, K.E., Ackerman, S.L., Seburn, K.L., Antonellis, A., and Burgess, R.W. 2011. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol Cell Neurosci, 46, 432-443.
2010
Antonellis, A., Dennis, M.Y., Burzynski, G., Huynh, J., Maduro, V., Hodonsky, C.J., Khajavi, M., Szigeti, K., Mukkamala, S., Bessling, S.L., NISC Comparative Sequencing Program, Pavan, W.J., McCallion, A.S., Lupski, J.R., and Green, E.D. 2010. A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo. PLOS One, 5, e14346.
McLaughlin, H.M., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P.F., Hansen, N.F., Mullikin, J.C., NISC Comparative Sequencing Program, Biesecker, L.G., Wilson, T.E., Ionasescu, V., Nicholson, G., Searby, C., Talbot, K., Vance, J.M., Züchner, S., Szigeti, K., Lupski, J.R., Hou, Y.M., Green, E.D., and Antonellis, A. 2010. Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy. Am J Hum Genet, 87, 560-566.
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