Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase
Author:
Publisher
Pleiades Publishing Ltd
Subject
Biochemistry,General Medicine
Link
http://link.springer.com/content/pdf/10.1134/S0006297921140029.pdf
Reference93 articles.
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3. Jordanova, A., Irobi, J., Thomas, F. P., Dijck, P. V., Meerschaert, K., et al. (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot–Marie–Tooth neuropathy, Nat. Genet., 38, 197-202.
4. Latour, P., Thauvin-Robinet, C., Baudelet-Méry, C., Soichot, P., Cusin, V., et al. (2010) A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot–Marie–Tooth disease, Am. J. Hum. Genet., 86, 77-82.
5. McLaughlin, H. M., Sakaguchi, R., Giblin, W., NISC Comparative Sequencing Program, Wilson, T. E., et al. (2012) A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot–Marie–Tooth disease type 2N (CMT2N), Hum. Mutat., 33, 244-253.
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