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Items: 1 to 20 of 43

1.
Extracellular vesicles derived from macrophages display glycyl‐tRNA synthetase 1 and exhibit anti‐cancer activity
Peter C. Goughnour, Min Chul Park, Sang Bum Kim, Sangmi Jun, Won Suk Yang, Sehyun Chae, Seongmin Cho, Chihong Song, Ji‐Hyun Lee, Jae Kyung Hyun, Byung Gyu Kim, Daehee Hwang, Hyun Suk Jung, Yong Song Gho, Sunghoon Kim
J Extracell Vesicles. 2020 Nov; 10(1): e12029. Published online 2020 Dec 1. doi: 10.1002/jev2.12029
PMCID:
PMC7890555
AbstractArticlePDF–2.8M
2.
Developmental demands contribute to early neuromuscular degeneration in CMT2D mice
James N. Sleigh, Aleksandra M. Mech, Giampietro Schiavo
Cell Death Dis. 2020 Jul; 11(7): 564. Published online 2020 Jul 23. doi: 10.1038/s41419-020-02798-y
PMCID:
PMC7378196
AbstractArticlePDF–1.7M
3.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
Kathryn H. Morelli, Laurie B. Griffin, Nettie K. Pyne, Lindsay M. Wallace, Allison M. Fowler, Stephanie N. Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Dattatreya Mellacheruvu, Jacob O. Kitzman, Samuel G. Kocen, Timothy J. Hines, Emily L. Spaulding, James R. Lupski, Alexey Nesvizhskii, Pedro Mancias, Ian J. Butler, Xiang-Lei Yang, Ya-Ming Hou, Anthony Antonellis, Scott Q. Harper, Robert W. Burgess
J Clin Invest. 2019 Dec 2; 129(12): 5568–5583. Published online 2019 Nov 11. doi: 10.1172/JCI130600
PMCID:
PMC6877339
AbstractArticlePDF–8.6M
4.
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations
James N. Sleigh, John M. Dawes, Steven J. West, Na Wei, Emily L. Spaulding, Adriana Gómez-Martín, Qian Zhang, Robert W. Burgess, M. Zameel Cader, Kevin Talbot, Xiang-Lei Yang, David L. Bennett, Giampietro Schiavo
Proc Natl Acad Sci U S A. 2017 Apr 18; 114(16): E3324–E3333. Published online 2017 Mar 28. doi: 10.1073/pnas.1614557114
PMCID:
PMC5402433
AbstractArticlePDF–1.9M
5.
Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot–Marie–Tooth Type 2d
Emily L. Spaulding, James N. Sleigh, Kathryn H. Morelli, Martin J. Pinter, Robert W. Burgess, Kevin L. Seburn
J Neurosci. 2016 Mar 16; 36(11): 3254–3267. doi: 10.1523/JNEUROSCI.1762-15.2016
PMCID:
PMC4792937
AbstractArticlePDF–3.4M
6.
Neuropathic Pain Model of Peripheral Neuropathies Mediated by Mutations of Glycyl-tRNA Synthetase
Seo Jin Lee, Ah Jung Seo, Byung Sun Park, Hyun Woo Jo, Youngbuhm Huh
J Korean Med Sci. 2014 Aug; 29(8): 1138–1144. Published online 2014 Jul 30. doi: 10.3346/jkms.2014.29.8.1138
PMCID:
PMC4129208
AbstractArticlePDF–2.4M
7.
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot–Marie–Tooth type 2D mice
James N. Sleigh, Stuart J. Grice, Robert W. Burgess, Kevin Talbot, M. Zameel Cader
Hum Mol Genet. 2014 May 15; 23(10): 2639–2650. Published online 2013 Dec 23. doi: 10.1093/hmg/ddt659
PMCID:
PMC3990164
AbstractArticlePDF–960K
8.
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
Zhongying Mo, Xiaobei Zhao, Huaqing Liu, Qinghua Hu, Xu-Qiao Chen, Jessica Pham, Na Wei, Ze Liu, Jiadong Zhou, Robert W. Burgess, Samuel L. Pfaff, C. Thomas Caskey, Chengbiao Wu, Ge Bai, Xiang-Lei Yang
Nat Commun. 2018; 9: 1007. Published online 2018 Mar 8. doi: 10.1038/s41467-018-03461-z
PMCID:
PMC5843656
AbstractArticlePDF–1.7M
9.
Metabolite profile of a mouse model of Charcot–Marie–Tooth type 2D neuropathy: implications for disease mechanisms and interventions
Preeti Bais, Kirk Beebe, Kathryn H. Morelli, Meagan E. Currie, Sara N. Norberg, Alexei V. Evsikov, Kathy E. Miers, Kevin L. Seburn, Velina Guergueltcheva, Ivo Kremensky, Albena Jordanova, Carol J. Bult, Robert W. Burgess
Biol Open. 2016 Jul 15; 5(7): 908–920. Published online 2016 Jun 10. doi: 10.1242/bio.019273
PMCID:
PMC4958279
AbstractArticlePDF–1.3M
10.
Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
William W. Motley, Kevin L. Seburn, Mir Hussain Nawaz, Kathy E. Miers, Jun Cheng, Anthony Antonellis, Eric D. Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H. Fischbeck, Robert W. Burgess
PLoS Genet. 2011 Dec; 7(12): e1002399. Published online 2011 Dec 1. doi: 10.1371/journal.pgen.1002399
PMCID:
PMC3228828
AbstractArticlePDF–8.8M
11.
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
Francesca Achilli, Virginie Bros-Facer, Hazel P. Williams, Gareth T. Banks, Mona AlQatari, Ruth Chia, Valter Tucci, Michael Groves, Carole D. Nickols, Kevin L. Seburn, Rachel Kendall, Muhammed Z. Cader, Kevin Talbot, Jan van Minnen, Robert W. Burgess, Sebastian Brandner, Joanne E. Martin, Martin Koltzenburg, Linda Greensmith, Patrick M. Nolan, Elizabeth M. C. Fisher
Dis Model Mech. 2009 Jul-Aug; 2(7-8): 359–373. Published online 2009 May 26. doi: 10.1242/dmm.002527
PMCID:
PMC2707104
AbstractArticle
12.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath
Brain. 2022 Nov; 145(11): 3999–4015. Published online 2022 Feb 11. doi: 10.1093/brain/awac055
PMCID:
PMC9679171
AbstractArticlePDF–1.7M
13.
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease
Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre
Sci Rep. 2021; 11: 12251. Published online 2021 Jun 10. doi: 10.1038/s41598-021-91094-6
PMCID:
PMC8192785
AbstractArticlePDF–2.7M
14.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons
Veronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, Helen Griffin, Andreas Roos, Marina Bartsakoulia, Boglarka Bansagi, Giulia Ricci, Fanni Palinkas, René P Zahedi, Francesco Bruni, Brian Kaspar, Hanns Lochmüller, Kym M Boycott, Juliane S Müller, Rita Horvath
Hum Mol Genet. 2018 Jun 15; 27(12): 2187–2204. Published online 2018 Apr 10. doi: 10.1093/hmg/ddy127
PMCID:
PMC5985729
AbstractArticlePDF–3.8M
15.
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess
Mol Cell Neurosci. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Mol Cell Neurosci. 2011 Feb; 46(2): 432–443. Published online 2010 Nov 27. doi: 10.1016/j.mcn.2010.11.006
PMCID:
PMC3030653
AbstractArticlePDF–2.6M
16.
Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1G93A Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice
Gareth T. Banks, Virginie Bros-Facer, Hazel P. Williams, Ruth Chia, Francesca Achilli, J. Barney Bryson, Linda Greensmith, Elizabeth M. C. Fisher
PLoS One. 2009; 4(7): e6218. Published online 2009 Jul 13. doi: 10.1371/journal.pone.0006218
Correction in:
PLoS One. 2009; 4(10): 10.1371/annotation/255006a5-407c-4c01-8e61-3be7ee39aad8.
PMCID:
PMC2704870
AbstractArticlePDF–507K
17.
Charcot–Marie–Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect
Leslie A. Nangle, Wei Zhang, Wei Xie, Xiang-Lei Yang, Paul Schimmel
Proc Natl Acad Sci U S A. 2007 Jul 3; 104(27): 11239–11244. Published online 2007 Jun 26. doi: 10.1073/pnas.0705055104
PMCID:
PMC2040883
AbstractArticlePDF–1.2M
18.
Long-range structural effects of a Charcot–Marie–Tooth disease-causing mutation in human glycyl-tRNA synthetase
Wei Xie, Leslie A. Nangle, Wei Zhang, Paul Schimmel, Xiang-Lei Yang
Proc Natl Acad Sci U S A. 2007 Jun 12; 104(24): 9976–9981. Published online 2007 Jun 1. doi: 10.1073/pnas.0703908104
PMCID:
PMC1891255
AbstractArticlePDF–1.7M
19.
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
Veronick Benoy, Lawrence Van Helleputte, Robert Prior, Constantin d’Ydewalle, Wanda Haeck, Natasja Geens, Wendy Scheveneels, Begga Schevenels, M Zameel Cader, Kevin Talbot, Alan P Kozikowski, Pieter Vanden Berghe, Philip Van Damme, Wim Robberecht, Ludo Van Den Bosch
Brain. 2018 Mar; 141(3): 673–687. Published online 2018 Feb 5. doi: 10.1093/brain/awx375
PMCID:
PMC5837793
AbstractArticlePDF–809K
20.
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess
Cell Rep. Author manuscript; available in PMC 2017 May 3.
Published in final edited form as: Cell Rep. 2017 Mar 28; 18(13): 3178–3191. doi: 10.1016/j.celrep.2017.03.009
PMCID:
PMC5415377
AbstractArticlePDF–1.3M

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