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Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in three other tRNA synthetase genes cause similar neuropathies, although the underlying mechanisms are n...

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Detalles Bibliográficos
Autores principales: Motley, William W., Seburn, Kevin L., Nawaz, Mir Hussain, Miers, Kathy E., Cheng, Jun, Antonellis, Anthony, Green, Eric D., Talbot, Kevin, Yang, Xiang-Lei, Fischbeck, Kenneth H., Burgess, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228828/
https://www.ncbi.nlm.nih.gov/pubmed/22144914
http://dx.doi.org/10.1371/journal.pgen.1002399