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Items: 1 to 20 of 43

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
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
3.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
E. L. Spaulding, T. J. Hines, P. Bais, A. L. D. Tadenev, R. Schneider, D. Jewett, B. Pattavina, S. L. Pratt, K. H. Morelli, M. G. Stum, D. P. Hill, C. Gobet, M. Pipis, M. M. Reilly, M. J. Jennings, R. Horvath, Y. Bai, M. E. Shy, B. Alvarez-Castelao, E. M. Schuman, L. P. Bogdanik, E. Storkebaum, R. W. Burgess
Science. Author manuscript; available in PMC 2022 Sep 3.
Published in final edited form as: Science. 2021 Sep 3; 373(6559): 1156–1161. Published online 2021 Sep 1. doi: 10.1126/science.abb3414
PMCID:
PMC8908546
AbstractArticlePDF–1.4M
4.
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
5.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
6.
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
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
AbstractArticlePDF–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
AbstractArticlePDF–1.7M
9.
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
10.
Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors
Hyeonwoo Kim, Christiane D. Wrann, Mark Jedrychowski, Sara Vidoni, Yukiko Kitase, Kenichi Nagano, Chenhe Zhou, Joshua Chou, Virginia-Jeni A. Parkman, Scott J. Novick, Timothy S. Strutzenberg, Bruce D. Pascal, Phuong T. Le, Daniel J. Brooks, Alexander M. Roche, Kaitlyn K. Gerber, Laura Mattheis, Wenjing Chen, Hua Tu, Mary L. Bouxsein, Patrick R. Griffin, Roland Baron, Clifford J. Rosen, Lynda F. Bonewald, Bruce M. Spiegelman
Cell. Author manuscript; available in PMC 2019 Dec 13.
Published in final edited form as: Cell. 2018 Dec 13; 175(7): 1756–1768.e17. doi: 10.1016/j.cell.2018.10.025
Correction in:
Cell. 2019 Jul 11; 178(2): 507–508.
PMCID:
PMC6298040
AbstractArticlePDF–1.2M
11.
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
12.
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
13.
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
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
AbstractArticlePDF–7.7M
15.
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
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
AbstractArticlePDF–1.9M
17.
Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function
Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang
Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626
PMCID:
PMC5381226
AbstractArticlePDF–1.4M
18.
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
19.
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
20.
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
AbstractArticlePDF–3.9M

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