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

Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutati...

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Detalhes bibliográficos
Main Authors: Achilli, Francesca, Bros-Facer, Virginie, Williams, Hazel P., Banks, Gareth T., AlQatari, Mona, Chia, Ruth, Tucci, Valter, Groves, Michael, Nickols, Carole D., Seburn, Kevin L., Kendall, Rachel, Cader, Muhammed Z., Talbot, Kevin, van Minnen, Jan, Burgess, Robert W., Brandner, Sebastian, Martin, Joanne E., Koltzenburg, Martin, Greensmith, Linda, Nolan, Patrick M., Fisher, Elizabeth M. C.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Limited 2009
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2707104/
https://ncbi.nlm.nih.gov/pubmed/19470612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.002527
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