Anthony Antonellis

Anthony Antonellis, Ph.D.

Professor of Human Genetics
Professor of Neurology
3710A Med Sci II
1241 E. Catherine St. SPC 5618
Ann Arbor, MI 48109 -5618

Administrative Contact

Sue Kellogg

Areas of Interest

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 & 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

Published Articles or Reviews


Orenstein, N., Weiss, K., Oprescu, S.N., Kidron, D., Vanagaite-Basel, L., Antonellis, A., and Muenke, M. 2016. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clinical Genetics, in press. 

Oprescu, S.N.Griffin, L.B., Beg, A.A., and Antonellis, A. 2016. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods, in press. 

Gopinath, C.*Law, W.D.*, Rodriguez-Molina, J.F., Prasad, A.B., Song, L., Crawford, G.E., Mullikin, J.C., Svaren, J., and Antonellis, A. 2016. Stringent Comparative Sequence Analysis Reveals SOX10 as a Putative Inhibitor of Glial Cell Differentiation. BMC Genomics, 17, 887. 

Fogarty, E.A.*Brewer, M.H.*, Rodriguez-Molina, J.F., Law, W.D., Ma, K.H., Steinberg, N.M., Svaren, J., and Antonellis, A. 2016. SOX10 Regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet, in press. 

Lopez-Anido, C., Poitelon, Y., Gopinath, C., Moran, J.J., Ma, K.H., Law, W.D.Antonellis, A., Feltri, M.L., and Svaren, J. 2016. Tead1 regulates the expression of peripheral myelin protein 22 during Schwann cell development. Hum Mol Genet, 25, 3055-3069. 

Griffin, L.B., Farley, F.A., Antonellis, A., and Keegan, C.E. 2016. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb Mol Case Stud, 2:a000943. 

Malissovas, N., Griffin, L.B.Antonellis, A., and Beis, D. 2016. Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Hum Mol Genet, 25, 1528-1542. 


Gonzaga-Jauregui, C.*, Harel, T.*, Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., and Lupski, J.R. 2015. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep, 12, 1169-1183. 

Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schüle, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Németh, A.H., Carelli, V., Huang, T., Züchner, S., and Dallman, J.E. 2015. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet, 47, 926-932. 

Brozkova, D.S., Deconinck, T., Griffin, L.B., Haberlova, J., Mazanec, R., Lassuthova, P., Ferbert, A., Roth, C., Pilunthanakul, P., Rautenstrauss, B., Janecke, A.R., Zavadakova, P., Chrast, R., Rivolta, C., Züchner, S., Antonellis, A., Beg, A.A., De Jonghe, P., Senderek, J.*, Seeman, P.*, and Baets, J.* 2015. Loss-of-function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain, 138, 2161-2172. 

Motley, W.W., Griffin, L.B., Mademan, I., Baets, J., De Vriendt, E., De Jonghe, P., Antonellis, A., Jordanova, A., and Scherer, S.S. 2015. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology, 84, 2040-2047. 

Simons, C.*, Griffin, L.B.*, Helman, G., Golas, G., Pizzino, A., Bloom, M., Murphy, J.L.P., Crawford, J., Evans, S.H., Topper, S., Whitehead, M.T., Schreiber, J.M., Chapman, K.A., Tifft, C., Lu, K.B., Gamper, H., Shigematsu, M., Taft, R.J., Antonellis, A., Hou, Y.M.*, Vanderver, A.* 2015. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal recessive early onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet, 96, 675-681. 


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, 35, 1363-1371. 

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 SH3TC2Hum Mol Genet, 23, 5171-5187. 

Web Sites