Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease

Por Malissovas, Nikos, Griffin, Laurie B., Antonellis, Anthony, Beis, Dimitris
Publicado no Hum Mol Genet (2016)

Predicting the Pathogenicity of Aminoacyl-tRNA Synthetase Mutations

Por Oprescu, Stephanie N., Griffin, Laurie B., Beg, Asim A., Antonellis, Anthony
Publicado no Methods (2016)

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

Por Antonellis, Anthony, Oprescu, Stephanie N., Griffin, Laurie B., Heider, Amer, Amalfitano, Andrea, Innis, Jeffrey W.
Publicado no Hum Mutat (2018)

Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells

Por Grohar, Patrick J, Griffin, Laurie B, Yeung, Choh, Chen, Qing-Rong, Pommier, Yves, Khanna, Chand, Khan, Javed, Helman, Lee J
Publicado em 2011

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

Por Griffin, Laurie B., Sakaguchi, Reiko, McGuigan, David, Gonzalez, Michael A., Searby, Charles, Züchner, Stephan, Hou, Ya-Ming, Antonellis, Anthony
Publicado em 2014

A novel AARS mutation in a family with dominant myeloneuropathy

Por Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.
Publicado no Neurology (2015)

AKAP9 Is Essential for Spermatogenesis and Sertoli Cell Maturation in Mice

Por Schimenti, Kerry J., Feuer, Sky K., Griffin, Laurie B., Graham, Nancy R., Bovet, Claire A., Hartford, Suzanne, Pendola, Janice, Lessard, Carl, Schimenti, John C., Ward, Jeremy O.
Publicado em 2013

Identification of an Inhibitor of the EWS-FLI1 Oncogenic Transcription Factor by High-Throughput Screening

Por Grohar, Patrick J., Woldemichael, Girma M., Griffin, Laurie B., Mendoza, Arnulfo, Chen, Qing-Rong, Yeung, Choh, Currier, Duane G., Davis, Sean, Khanna, Chand, Khan, Javed, McMahon, James B., Helman, Lee J.
Publicado em 2011

Mutation in Mouse Hei10, an E3 Ubiquitin Ligase, Disrupts Meiotic Crossing Over

Por Ward, Jeremy O, Reinholdt, Laura G, Motley, William W, Niswander, Lisa M, Deacon, Dekker C, Griffin, Laurie B, Langlais, Kristofor K, Backus, Vickie L, Schimenti, Kerry J, O'Brien, Marilyn J, Eppig, John J, Schimenti, John C
Publicado em 2007

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Por Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher
Publicado no Hum Mutat (2017)

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Por Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline
Publicado no Am J Hum Genet (2015)

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Por Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini, Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J, Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Publicado no Cell Rep (2015)

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado no Nat Genet (2015)