Anthony Antonellis, Ph.D.

Anthony Antonellis , Ph.D.

Associate Professor of Human Genetics
Associate Professor of Neurology

3710A Med Sci II
1241 E. Catherine St. SPC 5618
Ann Arbor
MI
48109 -5618
Phone: 
734-647-4058
Fax: 
734-763-3784
Email: 
antonell@umich.edu
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 http://hg.med.umich.edu/labs/antonellis/Antonellis_Laboratory/Projects.html 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
Education: 
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: 

For complete list see: http://hg.med.umich.edu/labs/antonellis/Antonellis_Laboratory/Publicatio...

2014

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].

2013

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.

2012

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.