Antonellis Lab Publications
Bold text indicates Antonellis lab member
* indicates joint first or corresponding authorship
2024
Beijer, D., Marte, S., Li, J.C., De Ridder, W., Chen, J.Z., Tadenev, A.L.D., Miers, K.E., Deconinck , T., Macdonell, R., Marques, W., De Jonghe, P., Pratt, S.L., Meyer-Schuman, R., Züchner, S., Antonellis, A.*, Burgess, R.W.*, and Baets, J*. 2024. Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. Brain Commun, in press.
2023
Meyer-Schuman, R., Marte, S., Smith, T.J., Feely, S.M.E., Kennerson, M., Nicholson, G., Shy, M.E., Koutmou, K.S., and Antonellis, A. 2023. A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Hum Mol Genet, 32, 2177-2191.
2022
Del Greco, C., and Antonellis, A. 2022. The role of nuclear-encoded mitochondrial tRNA charging enzymes in human inherited disease. Genes, 13, 2319.
Forrest, M.E., Meyer, A.P., Laureano Figueroa, S.M., and Antonellis, A. A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. 2022. Cold Spring Harb Mol Case Stud, 8, a006246.
Meyer, A.P., Forrest, M.E., Nicolau, S., Wiszniewski, W., Bland, M.P., Tsao, C.Y., Antonellis, A., and Abreu, N.J. 2022. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. 2022. Hum Mutat, 43, 869-876.
2021
Shadrach, J.L., Stansberry, W.M., Milen, A.M., Ives, R.E., Fogarty, E.A., Antonellis, A., and Pierchala, B.A. Translatomic analysis of regenerating and degenerating spinal motor neurons in injury and ALS. 2021. iScience, 24, 102700.
Garin, S., Levi, O., Forrest, M.E., Antonellis, A., and Arava, Y.S. Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases. 2021. RNA Biology, 18, 2605-2616.
Meyer-Schuman, R. and Antonellis, A. 2021. Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy. FEBS J, 288, 91-94.
2020
Fogarty, E.A., Kitzman, J.O., and Antonellis, A. 2020. SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells. BMC Genomics, 21, 549.
Galatolo, D., Kuo, M.E., Mullen, P., Meyer-Schuman, R., Doccini, S., Battini, R., Lieto, M., Tessa, A., Filla, A., Francklyn, C., Antonellis, A., and Santorelli, F.M. 2020. Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome. Hum Mutat, 41, 1232-1237.
Markovitz, R., Ghosh, R., Kuo, M.E., Hong, W., Lim, J., Bernes, S,. Manberg, S., Crosby, K., Tanpaiboon, P., Bharucha-Goebel, D., Bonnemann, C., Mohila, C.A., Mizerik, E., Woodbury, S., Bi, W., Lotze, T., Antonellis, A., Xiao, R., and Potocki, L. 2020. GARS-related Disease in Infantile Spinal Muscular Atrophy: Implications for Diagnosis and Treatment. Am J Med Genet A, 182, 1167-1176.
Kuo, M.E. and Antonellis, A. 2020. Ubiquitous proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging. Trend Genet, 36, 105-117.
Kuo, M.E., Antonellis, A.*, and Shakkottai, V.G.* 2020. Alanyl-tRNA synthetase 2 (AARS2)-related ataxia without leukoencephalopathy. Cerebellum, 19, 154-160.
2019
Grosz, B.R., Golovchenko, N.B., Ellis, M., Kumar, K., Nicholson, G.A., Antonellis, A., and Kennerson, M.L. 2019. A de novo EGR2 variant, c.1232A>G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Sci Rep, 9, 19336.
Lee, D.C.*, Meyer-Schuman, R.*, Bacon, C., Shy, M., Antonellis, A., and Scherer, S.S. 2019. A recurrent GARS mutation causes distal hereditary motor neuropathy. J Peripher Nerv Syst, 24, 320-323.
Morelli, K.H., Griffin, L.B., Pyne, N.K., Wallace, L.M., Fowler, A.M., Oprescu, S.N., Takase, R., Wei, N., Meyer-Schuman, R., Mellacheruvu, D., Kitzman, J.O., Kocen, S.G., Hines, T.J., Spaulding, E.L., Lupski, J.R., Nesvizhskii, A., Mancias, P., Butler, I.J., Yang, X.L., Hou, Y.M., Antonellis, A.*, Harper, S.Q.*, and Burgess, R.W.* 2019. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest, 129, 5568-5583.
Gillespie, M.K., McMillan, H.J., Kernohan, K.D., Pena, I.A., Meyer-Schuman, R., Care4Rare Canada Consortium, Antonellis, A., and Boycott, K.M. 2019. A novel mutation in MARS in a patient with Charcot-Marie-Tooth disease, axonal, type 2U with congenital onset. J Neuromuscul Dis, 6, 333-339.
Ravi, B., Antonellis, A., Sumner, C.J., and Lieberman, A.P. 2019. Genetic approaches to the treatment of inherited neuromuscular diseases. Hum Mol Genet, 28 (R1), R55-R64.
Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S.N., Slavin, T.P., Lee, S., Magoulas, P.L., Lewis, A., Emrick, L., Lalani, S.R., Niu, Z., Landsverk, M.L., Walkiewicz, M., Person, R.E., Mei, H., Rosenfeld, J.A., Yang, Y., Antonellis, A., Hou, Y.M., Lin, J., and Zhang, V.W. 2019. Loss-of-function mutations in lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet, 5, e565.
Kuo, M.E.*, Theil, A.F.*, Kievit, A., Malicdan, M.C., Introne, W.J., Christian, T., Verheijen, F., Smith, D.E.C., Mendes, M.I., Hussaarts-Odijk, L., van der Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, Y.M., Gahl, W.A., Antonellis, A.*, Salomons, G.S.*, and Mancini, G.M.S. 2019. Cysteinyl-tRNA synthetase mutations cause a multi-system, recessive disease that includes microcephaly, developmental delay, and brittle hair and nails. Am J Hum Genet, 104, 520-529.
Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S.N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J.S., Giong, H.K., Distelmaier, F., Elpeleg, O., Helbig, K.L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J.R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D.N., Spiegel, R., Timmerman, V., Von Spiczak, S., Helbig, I., C4RCD Research Group, AR working group of the EuroEPINOMICS-RES Consortium, Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., and de Jonghe, P. 2019. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Comm, 10, 708.
Williams, K.B., Brigatti, K.W., Puffenberger, E.G., Gonzaga-Jauregui, C., Griffin, L.B., Martinez, E.D., Wenger, O.K., Yoder, M., Kandula, V.V.R., Fox, M.D., Demczko, M.M., Poskitt, L., Furuya, K.N., Reid, J.G., Overton, J.D., Baras, A., Miles, L., Radhakrishnan, K., Carson, V.J., Antonellis, A.*, Jinks, R.N.*, Strauss, K.A.* 2019. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet, 28, 525-538.
2018
Weterman, M.A.J., Kuo, M., Kenter, S.B., Gordillo, S., Karjosukarso, D., Takase, R., Bronk, M., Oprescu, S., van Ruissen, F., Witteveen, R.J.W., Bienfait, H.M.E., Breuning, M., Verhamme, C., Hou, Y.M., de Visser, M., Antonellis, A., and Baas, F. 2018. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expands clinical and molecular heterogeneities. Hum Mol Genet, 27, 4036-4050.
Law, W.D., Fogarty, E.A., Vester, A., and Antonellis, A. 2018. A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve. BMC Genomics, 19, 311.
Rips, J., Meyer-Schuman, R., Breuer, O., Tsabari, R., Shaag, A., Revel-Vilk, S., Reif, S., Elpeleg, O., Antonellis, A., and Harel, T. 2018. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. Eur J Med Genet, 61, 616-620.
Antonellis, A., Oprescu, S.N., Griffin, L.B., Heider, A., Amalfitano, A., and Innis, J.W. 2018. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat, 39, 834-840.
Abbott, J.A., Meyer-Schuman, R., Lupo, V., Feely, S., Mademan, I., Oprescu, S.N., Griffin, L.B., Alberti, M.A., Casasnovas, C., Aharoni, S., Basel-Vanagaite, L., Züchner, S., De Jonghe, P., Baets, J., Shy, M.E., Espinós, C., Demeler, B., Antonellis, A.*, and Francklyn, C*. 2018. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat, 39, 415-432.
2017
Oprescu, S.N., Chepa-Lotrea, X., Takase, R., Golas, G., Markello, T.C., Adams, D.R., Toro, C., Gropman, A.L., Hou, Y.M., Malicdan, M.C.V., Gahl, W.A., Tifft, C.J., and Antonellis, A. 2017. Compound heterozygosity for loss-of-function GARS variants results in a multi-system developmental syndrome that Includes severe growth retardation. Hum Mutat, 38, 1412-1420.
Meyer-Schuman, R. and Antonellis, A. 2017. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. Hum Mol Genet, 26 (R2), R114-R127.
Orenstein, N., Weiss, K., Oprescu, S.N., Kidron, D., Vanagaite-Basel, L., Antonellis, A., and Muenke, M. 2017. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clin Genet, 91, 913-917.
Oprescu, S.N., Griffin, L.B., Beg, A.A., and Antonellis, A. 2017. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods, 113, 139-151.
2016
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, 25, 3925-3936.
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.
2015
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.
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, 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 SH3TC2. Hum Mol Genet, 23, 5171-5187.
2013
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., and 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.
2012
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.
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, 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.
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.
2009
Stine, Z.E., Huynh, J.L., Loftus, S.K., Gorkin, D.U., Salmasi, A.H., Novak, T., Purves, T., Miller, R.A., Antonellis, A., Gearhart, J.P., Pavan, W.J,, and McCallion, A.S., 2009. Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer. Genesis 47, 765-770.
Loftus, S.K., Antonellis, A., Matera, I., Renaud, G., Baxter, L.L., Reid, D., Wolfsberg, T.G., Chen, Y., Wang, C., Prasad, M.K., Bessling, S.L., McCallion, A.S., Green, E.D., Bennett, D.C., and Pavan, W.J., 2009. Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res 22, 99-110.
2008
Dutton, J.R., Antonellis, A., Carney, T.J., Rodrigues, F.S., Pavan, W.J., Ward, A., and Kelsh, R.N., 2008. An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. BMC Dev Biol 8, 105.
Antonellis, A.*, Huynh, J.L.*, Lee-Lin, S.Q., Vinton, R.M., Renaud, G., Loftus, S.K., Elliot, G., Wolfsberg, T.G., Green, E.D., McCallion, A.S., and Pavan, W.J., 2008. Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet 4, e1000174.
Brewer, M., Changi, F., Antonellis, A., Fischbeck, K., Polly, P., Nicholson, G., and Kennerson, M., 2008. Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics 9, 191-195.
Antonellis, A., and Green, E.D. 2008. Inter-species comparative sequence analysis: applications in human disease research and genomic medicine. In H.F. Willard and G. Ginsburg (Eds.) Genomic and Personalized Medicine (pp. 120-130). San Diego: Academic Press.
Antonellis, A., and Green, E.D., 2008. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 9, 87-107.
2007
No publications.
2006
Antonellis, A., Lee-Lin, S.Q., Wasterlain, A., Leo, P., Quezado, M., Goldfarb, L.G., Myung, K., Burgess, S., Fischbeck, K.H., and Green, E.D., 2006. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 26, 10397-10406.
Riazuddin, S., Khan, S.N., Ahmed, Z.M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A.U., Chen, K., Naz, S., Antonellis, A., Pavan, W.J., Green, E.D., Wilcox, E.R., Friedman, P.L., Morell, R.J., Riazuddin, S., and Friedman, T.B., 2006. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet 78, 137-143.
Antonellis, A.*, Bennett, W.R.*, Menheniott, T.R., Prasad, A.B., Lee-Lin, S.Q., Green, E.D., Paisley, D., Kelsh, R.N., Pavan, W.J., and Ward, A., 2006. Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet 15, 259-271.
2005
Sivakumar, K., Kyriakides, T., Puls, I., Nicholson, G.A., Funalot, B., Antonellis, A., Sambuughin, N., Christodoulou, K., Beggs, J.L., Zamba-Papanicolaou, E., Ionasescu, V., Dalakas, M.C., Green, E.D., Fischbeck, K.H., and Goldfarb, L.G., 2005. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain 128, 2304-2314.
Portnoy, M.E., McDermott, K.J., Antonellis, A., Margulies, E.H., Prasad, A.B., Kingsley, D.M., Green, E.D., and Mortlock, D.P., 2005. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics 86, 295-305.
2004
Jiao, Z., Mollaaghababa, R., Pavan, W.J., Antonellis, A., Green, E.D., and Hornyak, T.J., 2004. Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Res 17, 352-362.
Cannons, J.L., Yu, L.J., Hill, B., Mijares, L.A., Dombroski, D., Nichols, K.E., Antonellis, A., Koretzky, G.A., Gardner, K., and Schwartzberg, P.L., 2004. SAP Regulates T(H)2 Differentiation and PKC-theta;-Mediated Activation of NF-kappaB1. Immunity 21, 693-706.
2003
Antonellis, A., Ellsworth, R.E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L.T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J.M., Goldfarb, L.G., Fischbeck, K.H., and Green, E.D., 2003. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72, 1293-1299.
2002
Loftus, S.K., Larson, D.M., Baxter, L.L., Antonellis, A., Chen, Y., Wu, X., Jiang, Y., Bittner, M., Hammer, J.A., 3rd, and Pavan, W.J., 2002. Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci USA 99, 4471-4476.
Klupa, T., Warram, J.H., Antonellis, A., Pezzolesi, M., Nam, M., Malecki, M.T., Doria, A., Rich, S.S., and Krolewski, A.S., 2002. Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care 25, 2292-2301.
Etzioni, A., Sturla, L., Antonellis, A., Green, E.D., Gershoni-Baruch, R., Berninsone, P.M., Hirschberg, C.B., and Tonetti, M., 2002. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. Am J Med Genet 110, 131-135.
Antonellis, A., Rogus, J.J., Canani, L.H., Makita, Y., Pezzolesi, M.G., Nam, M., Ng, D., Moczulski, D., Warram, J.H., and Krolewski, A.S., 2002. A method for developing high-density SNP maps and its application at the type 1 angiotensin II receptor (AGTR1) locus. Genomics 79, 326-332.
2001
No publications.
2000
Moczulski, D.K., Scott, L., Antonellis, A., Rogus, J.J., Rich, S.S., Warram, J.H., and Krolewski, A.S., 2000. Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in Type 1 diabetes mellitus. Diabet Med 17, 111-118.
1999
Plengvidhya, N., Antonellis, A., Wogan, L.T., Poleev, A., Borgschulze, M., Warram, J.H., Ryffel, G.U., Krolewski, and A.S., Doria, A., 1999. Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes. Diabetes 48, 2099-2102.
Malecki, M.T., Yang, Y., Antonellis, A., Curtis, S., Warram, J.H., and Krolewski, A.S., 1999. Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus. Diabet Med 16, 193-200.
Malecki, M.T.*, Jhala, U.S.*, Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J.H., Montminy, M., and Krolewski, A.S., 1999. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23, 323-328.
1998
Moczulski, D.K., Rogus, J.J., Antonellis, A., Warram, J.H., and Krolewski, A.S., 1998. Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis. Diabetes 47, 1164-1169.
Malecki, M.T., Antonellis, A., Casey, P., Ji, L., Wantman, M., Warram, J.H., and Krolewski, A.S., 1998. Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q. Diabetes 47, 970-972.