Citations for
1CMT2D, GARS
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
Eskuri JM, Stanley CM, Moore SA, Mathews KD.
J Peripher Nerv Syst 17(1):132-4. doi: 10.1111/j.1529-8027.2012.00370.x. 2012
2GARS
Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.
Park MC, Kang T, Jin D, Han JM, Kim SB, Park YJ, Cho K, Park YW, Guo M, He W, Yang XL, Schimmel P, Kim S.
Proc Natl Acad Sci U S A 109(11):E640-7. Epub 2012 Feb 15. 2012
3CMT2D, GARS
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW.
PLoS Genet 7(12):e1002399. Epub 2011 Dec 1. 2011
4CMT2D, GARS
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M.
J Neurol 257(7):1202-4. Epub 2010 Feb 19. No abstract available. 2010
5CMT2D, GARS
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
Abe A, Hayasaka K.
J Hum Genet 54(5):310-2. Epub 2009 Mar 27. 2009
6CMT2D, GARS
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.
Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM.
Dis Model Mech 2(7-8):359-73. Epub 2009 May 26. 2009
7CMT2D,GARS
Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.
Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL.
Proc Natl Acad Sci U S A 104(24):9976-81. Epub 2007 Jun 1. 2007
8CMT2D,GARS
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P.
Proc Natl Acad Sci U S A 104(27):11239-44. Epub 2007 Jun 26. 2007
9GARS
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.
Cader MZ, Ren J, James PA, Bird LE, Talbot K, Stammers DK.
FEBS Lett 581(16):2959-64. Epub 2007 May 29. 2007
10DSMAVA, GARS
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K.
Neurology 67(9):1710-2. Erratum in: Neurology. 2007 Feb 27;68(9):711. 2006
11CMT2D, DSMAVA, GARS
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED.
Am J Hum Genet 72(5):1293-9. Epub 2003 Apr 10. 2003
12AARS, GARS, GART
Localization of two human autoantigen genes by PCR screening and in situ hybridization - glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22.
Nichols RC, et al.
Genomics 30 : 131-132. 1995