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Items: 1 to 20 of 64

1.
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy Sivakumar, Victor Ionasescu, Benoit Funalot, Jeffery M. Vance, Lev G. Goldfarb, Kenneth H. Fischbeck, Eric D. Green
Am J Hum Genet. 2003 May; 72(5): 1293–1299. Published online 2003 Apr 10. doi: 10.1086/375039
PMCID:
PMC1180282
ArticlePDF–760K
2.
Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice
James N. Sleigh, David Villarroel-Campos, Sunaina Surana, Tahmina Wickenden, Yao Tong, Rebecca L. Simkin, Jose Norberto S. Vargas, Elena R. Rhymes, Andrew P. Tosolini, Steven J. West, Qian Zhang, Xiang-Lei Yang, Giampietro Schiavo
JCI Insight. 2023 May 8; 8(9): e157191. Published online 2023 May 8. doi: 10.1172/jci.insight.157191
PMCID:
PMC10243821
ArticlePDF–9.8M
3.
Conformational sampling of CMT-2D associated GlyRS mutations
Matthew Carter Childers, Michael Regnier, Mark Bothwell, Alec S.T. Smith
Brain Multiphys. Author manuscript; available in PMC 2022 Dec 8.
Published in final edited form as: Brain Multiphys. 2022; 3: 100054. Published online 2022 Sep 6. doi: 10.1016/j.brain.2022.100054
PMCID:
PMC9731397
ArticlePDF–1.4M
4.
HDAC6 inhibition corrects electrophysiological and axonal transport deficits in a human stem cell-based model of Charcot-Marie-Tooth disease (type 2D)
Alec S.T. Smith, Jong Hyun Kim, Changho Chun, Ava Gharai, Hyo Won Moon, Eun Young Kim, Soo Hyun Nam, Nina Ha, Ju Yong Song, Ki Wha Chung, Hyun Myung Doo, Jennifer Hesson, Julie Mathieu, Mark Bothwell, Byung-Ok Choi, Deok-Ho Kim
Adv Biol (Weinh) Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Adv Biol (Weinh). 2022 Feb; 6(2): e2101308. Published online 2021 Dec 26. doi: 10.1002/adbi.202101308
PMCID:
PMC8849597
ArticlePDF–1.7M
5.
Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Yufeng Huang, Bo Bi, Peiwei Zhao, Ting Yu, Sukun Luo, Li Tan, Zhisheng Liu, Jie Liu, Xuelian He
Mol Genet Genomic Med. 2022 Jan; 10(1): e1846. Published online 2021 Dec 12. doi: 10.1002/mgg3.1846
PMCID:
PMC8801134
ArticlePDF–747K
6.
AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in GarsP278KY/+ mice
Burcak Ozes, Kyle Moss, Morgan Myers, Alicia Ridgley, Lei Chen, Darren Murrey, Zarife Sahenk
Brain Commun. 2021; 3(4): fcab252. Published online 2021 Oct 23. doi: 10.1093/braincomms/fcab252
PMCID:
PMC8568849
ArticlePDF–1.4M
7.
Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels
James N. Sleigh, Aleksandra M. Mech, Tahmina Aktar, Yuxin Zhang, Giampietro Schiavo
Front Cell Neurosci. 2020; 14: 232. Published online 2020 Aug 11. doi: 10.3389/fncel.2020.00232
PMCID:
PMC7431706
ArticlePDF–6.1M
8.
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
ArticlePDF–1.7M
9.
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M. White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri, Veronica Shubayev, Albena Jordanova, Velina Guergueltcheva, Patrick R. Griffin, Robert W. Burgess, Samuel L. Pfaff, Xiang-Lei Yang
Nature. Author manuscript; available in PMC 2016 Apr 29.
Published in final edited form as: Nature. 2015 Oct 29; 526(7575): 710–714. Published online 2015 Oct 21. doi: 10.1038/nature15510
Correction in:
Nature. 2016 Apr 21; 532(7599): 402.
PMCID:
PMC4754353
ArticlePDF–3.9M
10.
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS
Jamie M. Eskuri, Christine M. Stanley, Steven A. Moore, Katherine D. Mathews
J Peripher Nerv Syst. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: J Peripher Nerv Syst. 2012 Mar; 17(1): 132–134. doi: 10.1111/j.1529-8027.2012.00370.x
PMCID:
PMC3572939
ArticlePDF–947K
11.
The CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map
Rachel E. Ellsworth, Victor Ionasescu, Charles Searby, Val C. Sheffield, Valerie V. Braden, Tamara A. Kucaba, John D. McPherson, Marco A. Marra, Eric D. Green
Genome Res. 1999 Jun; 9(6): 568–574.
PMCID:
PMC310773
ArticlePDF–1.6M
12.
Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons
Anthony Antonellis, Shih-Queen Lee-Lin, Amy Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn Burgess, Kenneth H. Fischbeck, Eric D. Green
J Neurosci. 2006 Oct 11; 26(41): 10397–10406. doi: 10.1523/JNEUROSCI.1671-06.2006
PMCID:
PMC6674701
ArticlePDF–471K
13.
A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease
Abdoulaye Yalcouyé, Seybou H. Diallo, Thomas Coulibaly, Lassana Cissé, Salimata Diallo, Oumar Samassékou, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth Fischbeck, Guida Landouré, The H3Africa Consortium
Mol Genet Genomic Med. 2019 Jul; 7(7): e00782. Published online 2019 Jun 7. doi: 10.1002/mgg3.782
PMCID:
PMC6625146
ArticlePDF–388K
14.
Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis
James N. Sleigh, Adriana Gómez-Martín, Na Wei, Ge Bai, Xiang-Lei Yang, Giampietro Schiavo
Sci Rep. 2017; 7: 9216. Published online 2017 Aug 23. doi: 10.1038/s41598-017-10005-w
PMCID:
PMC5569042
ArticlePDF–7.7M
15.
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Michael Nafisinia, Lisa G. Riley, Wendy A. Gold, Kaustuv Bhattacharya, Carolyn R. Broderick, David R. Thorburn, Cas Simons, John Christodoulou
PLoS One. 2017; 12(6): e0178125. Published online 2017 Jun 8. doi: 10.1371/journal.pone.0178125
PMCID:
PMC5464557
ArticlePDF–4.2M
16.
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
ArticlePDF–1.9M
17.
Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations
Laurie B. Griffin, Reiko Sakaguchi, David McGuigan, Michael A. Gonzalez, Charles Searby, Stephan Züchner, Ya-Ming Hou, Anthony Antonellis
Hum Mutat. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Hum Mutat. 2014 Nov; 35(11): 1363–1371. doi: 10.1002/humu.22681
PMCID:
PMC4213347
ArticlePDF–1.1M
18.
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
ArticlePDF–960K
19.
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
ArticlePDF–1.7M
20.
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
Alayne P. Meyer, Megan E. Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J. Abreu
Hum Mutat. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Hum Mutat. 2022 Jul; 43(7): 869–876. Published online 2022 Apr 21. doi: 10.1002/humu.24372
PMCID:
PMC9247498
ArticlePDF–674K

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