Anthony Antonellis, Ph.D.

Anthony Antonellis , Ph.D.

Assistant Professor of Human Genetics
Assistant Professor of Neurology

3710A Med Sci II
1241 E. Catherine St. SPC 5618
Ann Arbor
48109 -5618
Staff Support: 
Sue Kellogg
Research Interests: 

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 for a description of the projects in our laboratory

Honors and Awards: 
2012 Basic Sciences Teaching Award, Human Genetics
2007-2011 NIH Pathway to Independence (PI) Award
2008 International Visiting Research Fellowship, University of Sydney, Sydney, Australia
2005-2006 Charcot-Marie-Tooth Association Fellowship
2003 NHGRI Intramural Award for Research Excellence
2008 Post-doctoral fellow, Human Genetics and Genomics, NIH/NHGRI
2004 Ph.D., Genetics, George Washington University / NIH
1992 B.S., Zoology, University of Massachusetts
Selected Publications: 


Gonzalez, M., McLaughlin, H., Houlden, H., Guo, M., Yo-Tsen, L., Hadjivassilious, M., Speziani, F., Inherited Neuropathy Consortium, Yang, X.-L., Antonellis, A., Reilly, M.M., Züchner, S. 2013. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry, 84, 1247-1249.

Chaudhry, R., Kidambi, A., Brewer, M.H., Antonellis, A., Mathews, K., Nicholson, G., and Kennerson, M. 2013. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve, 47, 922-924.

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.


Bedoyan, J.K., Schaibley, V.M., Peng, W., Bai, Y., Mondal, K., Shetty, A.C., Durham, M., Micucci, J.A., Dhiraaj, A., Skidmore, J.M., Kaplan, J.B., Skinner, C., Schwartz, C.E., Antonellis, A., Zwick, M.E., Cavalcoli, J.D., Li, J.Z., and Martin, D.M. 2012. Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet, 49, 332-340.

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.


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, 6, e29393.

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.