Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

Charcot–Marie–Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal neuropathies characterized by a phenotype that is more severe in the upper extremities. We previously implicated mutations in the gene encoding glycyl-tRNA synthetase (GARS) as the cause of CMT2...

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Bibliografski detalji
Izdano u:J Neurosci
Glavni autori: Antonellis, Anthony, Lee-Lin, Shih-Queen, Wasterlain, Amy, Leo, Paul, Quezado, Martha, Goldfarb, Lev G., Myung, Kyungjae, Burgess, Shawn, Fischbeck, Kenneth H., Green, Eric D.
Format: Artigo
Jezik:Inglês
Izdano: Society for Neuroscience 2006
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Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6674701/
https://ncbi.nlm.nih.gov/pubmed/17035524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1671-06.2006
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