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- Erratum in:
- Neurology. 2007 Feb 27;68(9):711.
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.
PMID: 17101916 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Gain-of-function mutational activation of human tRNA synthetase procytokine.
Yang XL, Kapoor M, Otero FJ, Slike BM, Tsuruta H, Frausto R, Bates A, Ewalt KL, Cheresh DA, Schimmel P.
Chem Biol. 2007 Dec; 14(12):1323-33.
[Chem Biol. 2007]
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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. 2007 Jul 3; 104(27):11239-44. Epub 2007 Jun 26.
[Proc Natl Acad Sci U S A. 2007]
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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. 2007 Jun 12; 104(24):9976-81. Epub 2007 Jun 1.
[Proc Natl Acad Sci U S A. 2007]